Publications by authors named "Lu-Ming Chen"

16 Publications

  • Page 1 of 1

Prognostic Structural Neural Markers of MRI in Response to Mechanical Thrombectomy for Basilar Artery Occlusion.

Front Neurol 2021 9;12:593914. Epub 2021 Jun 9.

Department of Neurology, Xinqiao Hospital and The Second Affiliated Hospital, Army Medical University (Third Military Medical University), Chongqing, China.

Mechanical thrombectomy (MT) has been an effective first-line therapeutic strategy for ischemic stroke. With impairment characteristics separating it from anterior circulation stroke, we aimed to explore prognostic structural neural markers for basilar artery occlusion (BAO) after MT. Fifty-four BAO patients with multi-modal magnetic resonance imaging at admission from the multicenter real-world designed BASILAR research were enrolled in this study. Features including volumes for cortical structures and subcortical regions, locations and volumes of infarctions, and white matter hyperintensity (WMH) volumes were recorded from all individuals. The impact features were identified using ANCOVA and logistic analysis. Another cohort ( = 21) was further recruited to verify the prognostic roles of screened prognostic structures. For the primary clinical outcome, decreased brainstem volume and total infarction volumes from mesencephalon and midbrain were significantly related to reduced 90-day modified Rankin score (mRS) after MT treatment. WMH volume, WMH grade, average cortex thickness, white matter volume, and gray matter volume did not exhibit a remarkable relationship with the prognosis of BAO. The increased left caudate volume was obviously associated with early symptomatic recovery after MT. The prognostic role of the ratio of pons and midbrain infarct volume in brainstem was further confirmed in another cohort with area under the curve (AUC) = 0.77. This study was the first to provide comprehensive structural markers for the prognostic evaluation of BAO. The fully automatic and semiautomatic segmentation approaches in our study supported that the proportion of mesencephalon and midbrain infarct volume in brainstem was a crucial prognostic structural neural marker for BAO.
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http://dx.doi.org/10.3389/fneur.2021.593914DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8220209PMC
June 2021

Recovery of a patient with severe COVID-19 by acupuncture and Chinese herbal medicine adjuvant to standard care.

J Integr Med 2021 Jun 8. Epub 2021 Jun 8.

Department of Critical Care Medicine, Second Clinical College, Guangzhou University of Chinese Medicine, Guangzhou 510120, Guangdong Province, China. Electronic address:

There is currently no drug or therapy that can cure the coronavirus disease 2019 (COVID-19), which is highly contagious and can be life-threatening in severe cases. Therefore, seeking potential effective therapies is an urgent task. An older female at the Leishenshan Hospital in Wuhan, China, with a severe case of COVID-19 with significant shortness of breath and decrease in peripheral oxygen saturation (SpO), was treated using manual acupuncture and Chinese herbal medicine granule formula Fuzheng Rescue Lung with Xuebijing Injection in addition to standard care. The patient's breath rate, SpO, heart rate, ratio of neutrophil/lymphocyte (NLR), ratio of monocyte/lymphocyte (MLR), C-reactive protein (CRP), and chest computed tomography were monitored. Acupuncture significantly improved the patient's breathing function, increased SpO, and decreased her heart rate. Chinese herbal medicine might make the effect of acupuncture more stable; the use of herbal medicine also seemed to accelerate the absorption of lung infection lesions when its dosage was increased. The combination of acupuncture and herbs decreased NLR from 14.14 to 5.83, MLR from 1.15 to 0.33 and CRP from 15.25 to 6.01 mg/L. These results indicate that acupuncture and Chinese herbal medicine, as adjuvants to standard care, might achieve better results in treating severe cases of COVID-19.
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http://dx.doi.org/10.1016/j.joim.2021.06.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8186062PMC
June 2021

Assessment of clogging of permeable pavements by measuring change in permeability.

Sci Total Environ 2020 Dec 29;749:141352. Epub 2020 Jul 29.

Department of Agricultural and Biological Engineering, University of Illinois at Urbana-Champaign, 1304 W. Pennsylvania Avenue, Urbana, IL 61801, USA. Electronic address:

Permeable pavements are a common solution for stormwater management. Porous areas in the pavements allow water to percolate into the subsurface layers, reducing surface runoff. However, it is common for substances to clog the voids, decreasing the porous area and permeability of the pavement system. This study examined the change in permeability over time at a site with two permeable pavement systems, the JW Eco-technology (JW) and pervious concrete (PC). Square frames SF-4 and SF-9 were used to perform falling-head and constant-head permeability tests, respectively. Results show that JW had a similar permeability across the test locations, 6.27-7.64 cm/s when using SF-4, and 0.95-1.00 cm/s when using SF-9. While the permeability at the center locations of PC showed no significant loss of permeability, there was a significant reduction of permeability on the corner and edge areas, where permeability ranged 0.28-1.73 cm/s using SF-4 and 0.14-0.36 cm/s using SF-9, suggesting the occurrence of clogging over time at corner locations. Furthermore, the measured values highlighted the measurement variability in permeability between the falling-head based method and the constant-head method, with measurements from SF-4 being approximately 6.2-7.6 and 2.0-5.7 times higher than those from SF-9 on JW and PC, respectively. In addition, as no current literature quantifies the relationship between permeability and extent of clogging for the JW Eco-technology pavement, evaluation of the proportionate change in permeability with respect to voids, or individual aqueducts, of JW pavement were investigated. While not a 1:1 linear relationship, data indicate that the permeability increased with an increase in non-blocked aqueducts. The JW pavement maintained more than 50% of its capacity when half of the aqueducts were fully blocked. Even when only one aqueduct was clear from clogging, the system had 36% (SF-4) and 19% (SF-9) of maximum permeable capacity.
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http://dx.doi.org/10.1016/j.scitotenv.2020.141352DOI Listing
December 2020

A novel Norrie disease pseudoglioma gene mutation, c.-1_2delAAT, responsible for Norrie disease in a Chinese family.

Int J Ophthalmol 2013 18;6(6):739-43. Epub 2013 Dec 18.

Department of Medical Genetics, Zhongshan Medical College, Sun Yat-sen University, Guangzhou 510080, Guangdong Province, China.

Aim: To investigate the genetic findings and phenotypic characteristics of a Chinese family with Norrie disease (ND).

Methods: Molecular genetic analysis and clinical examinations were performed on a Chinese family with ND. Mutations in the Norrie disease pseudoglioma (NDP) gene were detected by direct sequencing. Haplotypes were constructed and compared with the phenotypes in the family. Evolutionary comparisons and mutant open reading frame (ORF) prediction were also undertaken.

Results: Two family members with ocular manifestations were diagnosed with ND. No signs of sensorineural hearing loss were observed in either patient, while one of them showed signs of mild mental retardation. A novel heterozygous mutation in the NDP gene, c.-1_2delAAT, was detected in both patients. The mutation and the mutation bearing haplotype co-segregated with the ND phenotype in males and was transmitted from their mothers and/or grandmothers (II:2). The male without ND did not harbor the mutation. The mutation occurred at the highly conserved nucleotides. ORF finder predicted that the mutation would lead to the production of a truncated protein that lacks the first 11 N-terminal amino acids.

Conclusion: A novel mutation, c.-1_2delAAT in the NDP gene, was identified in a Chinese family with ND. This mutation caused ND without obvious sensorineural hearing loss. Mental disorder was found in one but not the other patients. The clinical heterogeneity in the family indicated that other genetic variants and epigenetic factors may also play a role in the disease presentation.
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http://dx.doi.org/10.3980/j.issn.2222-3959.2013.06.01DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3874509PMC
January 2014

[Mutation analysis for a Chinese family featuring X-linked alpha thalassemia/mental retardation syndrome].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2013 Dec;30(6):654-8

Department of Medical Genetics, Zhongshan School of Medicine, Sun Yat-sen University,Guangzhou, Guangdong 510080, P.R. China.

Objective: To identify potential mutation in a Chinese family featuring X-linked alpha thalassemia/mental retardation syndrome (ATR-X).

Methods: Based on clinical symptoms and inheritance pattern, linkage analysis of X chromosome short tandem repeats (X-STR) loci was carried out to locate the candidate gene. Subsequently, sequences of exons and exon-intron boundaries of the candidate gene were amplified with polymerase chain reaction (PCR). Potential mutations were detected by direct DNA sequencing. All patients were also analyzed for the trait of thalassemia.

Results: Linkage analysis indicated the candidate gene to be ATRX. Subsequently, a homozygous missense mutation c.736C>T (p.R246C) was found in exon 9 of ATRX in all of the 3 patients. And a heterozygous mutation c.736C>T (p.R246C) was also identified in the patient's mother and grandmother. Similar mutations were not detected in other members of the family. Alpha thalassemia was detected in the proband and another patient, whose genotypes were determined as -α(3.7)/αα and --(sea)/αα, respectively.

Conclusion: Missense mutation of c.736C>T in ATRX gene is a mutation hotspot, and p.R246C may disturb the function of ATRX-DNMT3-DNMT3L domain (ADD), which may be responsible for the disease in this family.
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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2013.06.004DOI Listing
December 2013

Specific lipase-responsive polymer-coated gadolinium nanoparticles for MR imaging of early acute pancreatitis.

Biomaterials 2014 Jan 5;35(1):356-67. Epub 2013 Oct 5.

Research Center of Translational Medicine, The First Affiliated Hospital, Sun Yat-Sen University, 58# Zhongshan 2nd Road, Guangzhou 510080, China.

Currently, available methods for diagnosis of acute pancreatitis (AP) are mainly dependent on serum enzyme analysis and imaging techniques that are too low in sensitivity and specificity to accurately and promptly diagnose AP. The lack of early diagnostic tools highlights the need to search for a highly effective and specific diagnostic method. In this study, we synthesized a conditionally activated, gadolinium-containing, nanoparticle-based MRI nanoprobe as a diagnostic tool for the early identification of AP. Gadolinium diethylenetriaminepentaacetic fatty acid (Gd-DTPA-FA) nanoparticles were synthesized by conjugation of DTPA-FA ligand and gadolinium acetate. Gd-DTPA-FA exhibited low cytotoxicity and excellent biocompatibility when characterized in vitro and in vivo studies. L-arginine induced a gradual increase in the intensity of the T1-weighted MRI signal from 1 h to 36 h in AP rat models. The increase in signal intensity was most significant at 1 h, 6 h and 12 h. These results suggest that the Gd-DTPA-FA as an MRI contrast agent is highly efficient and specific to detect early AP.
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http://dx.doi.org/10.1016/j.biomaterials.2013.09.046DOI Listing
January 2014

[Genotype of thalassemia genes and the polymorphism of β- globin gene in Cantonese].

Zhonghua Xue Ye Xue Za Zhi 2013 Jul;34(7):595-9

Department of Medical Genetics, Sun Yet-Sen University Zhongshan School of Medicine, Guangzhou 510080, China.

Objective: To understand the genotype of α and β-globin, as well as the polymorphism of β-globin gene in Cantonese in recent years, and to provide an effective genetic diagnosis for thalassemia (thal).

Methods: The single-tube complex PCR was used to detect 3 types of deletional α-thal, reverse dot blotting (RDB)/PCR to detect 3 kinds of undeletional α-thal-αCS, αQS, αWSand 18 kinds of β-thal mutations which were common in Chinese population. A total of 454 cases from Guangdong were undergone thal genotype genetic diagnosis. Among the 454 cases, 142 cases were selected to perform the single nucleotide polymorphisms (SNPs) analysis of β- globin gene by denaturing high-performance liquid chromatography (DHPLC)combining the whole gene sequencing.

Results: Of the 454 cases, 438 were diagnosed as thalassemia, including 246 of α-thal, 164 of β-thal and 28 of αβ-thal. In 246 α-thal cases, deletions were the dominant mutations, including 197 cases of αα/--(SEA), 20 of αα/-α(3.7) and 9 of αα/-α(4.2). In 164 β- thal cases, heterozygotes accounted for 92.7% (152/164), the main genotypes were CD41- 42, IVS-II-654, ﹣28 and CD17, and the dual heterozygotes and homozygotes accounted for 4.9% (8/164) and 2.4% (4/164), respectively. The result of β-globin gene screening by DHPLC combining with sequencing was consistent with that of RDB. Moreover, we also found 9 kinds of SNP, in which 2 were unreported, the IVS-I-13 G> A and IVS-II- 310 T>C. In the tested samples, the frequency of 4 kinds SNP was high, among which 3 kinds SNPs-rs713040, rs10768683 and rs1609812 were carried together.

Conclusion: The dominant genotypes were αα/--(SEA) in α-thal cases, CD41-42, IVS-II-654, -28 and CD17 in β-thal. The frequency of β-thal heterozygotes, homozygotes and αβ-thal is high. DHPLC combining the whole β-globin gene sequencing can effectively detect the common β-thal mutation and even new mutations or SNPs. In Cantonese, the frequency of SNP rs713040, rs10768683, rs7480526 and rs1609812 of β-globin gene was high, and there may exist genetic linkage between rs713040, rs10768683 and rs1609812.
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http://dx.doi.org/10.3760/cma.j.issn.0253-2727.2013.07.008DOI Listing
July 2013

[Investigation on response of the patient-reported outcome scale of the main-symptoms of chronic obstructive pulmonary disease complicated with pulmonary heart disease].

Zhong Xi Yi Jie He Xue Bao 2012 Sep;10(9):970-4

Department of Respiratory Medicine, Guangzhou University of Chinese Medicine, Guangzhou, Guangdong Province, China.

Objective: To select appropriate descriptors for response of the patient-reported outcome (PRO) scale for the main symptoms of patients with chronic obstructive pulmonary disease (COPD) complicated with pulmonary heart disease.

Methods: A cross-sectional investigation was carried out. Five equidistant ordinal descriptive words in the PRO scale of main symptoms for COPD complicated with pulmonary heart disease were selected. There were 32 alternative words in the questionnaire. Thirty respondents were required to place each descriptive word on a 10-centimeter line according to where they considered each descriptive word should be placed. Then, the line was measured by ruler; average, standard deviation and median were calculated by excel software; the authors finally chose the five equidistant words which accurately reflect the degree of main symptoms.

Results: The five most appropriate descriptive words were selected; they were "never", "seldom", "half-partly sometimes", "very often" and "always".

Conclusion: These selected decorated words are suitable for the PRO scale for patients with COPD complicated with pulmonary heart disease.
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http://dx.doi.org/10.3736/jcim20120904DOI Listing
September 2012

[Identification of a novel mutation of IDS gene from a Chinese pedigree with MPS II].

Yi Chuan 2009 Nov;31(11):1101-6

Department of Medical Genetics, Sun Yat-Sen Medical College, Sun Yat-Sen University, Guangzhou 510080, China.

The purpose of this study was to understand the molecular genetic mechanism of mucopolysaccharidosis type II (MPS II) and to provide a prerequisite for future prenatal gene diagnosis. A preliminary diagnosis was made by qualitative detection of Urinary Glycosaminoglycans of the suspected MPS II proband. Then, mutation detection was performed on the proband and his family members with PCR and direct sequencing of PCR products. After the novel mutation of c.876 del 2 in IDS gene was detected, sequence analysis was performed on exon 6 of IDS gene of the 135 cases, which consisted of 120 randomly selected normal controls, and other 15 patients with MPS I, IV, and VI other than MPS II. Besides, the patho-genicity of the novel mutation was analyzed with the following 2 methods: conservative analysis of the sequence of muta-tion spots of different species and the direct test of the IDS enzyme activity of the patient and his relative family members. The result of uroscopy of the proband was strong positive (GAGs +++). There was a novel deletion mutation of c.876-877 del TC in the coding region of exon 6 of IDS gene, which was a hemizygous mutation. However, the mutation of his mother and sister was a heterozygous mutation. Detection of the exon 6 of IDS gene showed that the mutation was not found among normal controls and other patients with MPS I, IV, and VI other than MPS II. Homology comparison of amino acid sequences from different species showed that the phenylalanine (F) glutamine (Q) of the mutation site of c.876-877 del TC located in p.292-293 was highly conserved. The activity of IDS enzyme of the proband was only 2.3 nmol/4 h/mL, which was much lower than normal; but the activity of IDS enzyme of his father, mother and sister was 641.9 nmol/4 h/mL, 95.8 nmol/4h/mL and 103.2 nmol/4h/mL, respectively. These results illustrated that the deletion and frame-shift mutation of c.876-877 del TC detected was a novel pathologic mutation, which was the underlying cause of MPS II of this patient.
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http://dx.doi.org/10.3724/sp.j.1005.2009.01101DOI Listing
November 2009

[Prenatal diagnosis of oculocutaneous albinism type II and discovery of two novel mutations].

Zhonghua Yi Xue Za Zhi 2007 Apr;87(16):1123-5

Department of Medical Genetics, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou 510080, China.

Objective: To investigate the genotype of oculocutaneous albinism type II (OCA2) and perform prenatal gene diagnosis for OCA2.

Methods: Peripheral blood samples were collected from a 9-year-old girl with OCA and her parents, the mother being pregnant. PCR, automatic sequence analysis and denaturing high performance liquid chromatography (DHPLC) were used to analyze the TYR gene and P gene so as to screen the OCA genes. Amniocentesis was conducted when the mother was 20-week pregnant and the amniotic cells underwent screening of the 2 specific mutations. Peripheral blood samples were collected from 100 healthy persons without phenotype of OCA to undergo genetic analysis.

Results: The TYR gene of the proband did not show any mutation, and 2 new mutations were found in her P gene: p. N476D (c. 1426 A>G) and p.Y827H (c.2479T>C). Her father and mother were heterozygote of Y827H and N476D respectively. Based on these findings the amniotic cells underwent sequencing of enlarged fragments of the exons 14 and 24 containing the mutation sites. The result showed that the fetus only got the maternal N476D mutation and didn't get the paternal Y827H mutation. So the fetus was predicted to be a carrier of OCA2 with normal appearance. The baby was born normal later as predicted. None of these 2 mutations was found in the 100 healthy persons.

Conclusion: This is a success of prenatal gene diagnosis of OCA2. Two novel mutations of the P gene related to OCA have been discovered.
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April 2007

[Prenatal gene diagnosis of oculocutaneous albinism type I].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2006 Jun;23(3):280-2

Department of Medical Genetics, Zhongshan Medical College, Sun Yat-sen University, Guangzhou, Guangdong, 510089 PR China.

Objective: Mutation analysis and prenatal gene diagnosis for the mutated tyrosinase (TYR) gene in two families with oculocutaneous albinism type I (OCA1).

Methods: To define the fetus genotypes and gene mutation sites, the PCR and sequencing techniques were applied to amplify and analyze the regions of exon, exon-intron and promoter of TYR gene in probands and their parents of 2 families.

Results: The patient or proband of family 1 showed as a compound heterozygote with mutants R278X and 929insC. However, the fetus did not get any one of the two mutations, and so was with a normal genotype and phenotype. The parents of proband in family 2 were heterozygous with IVS4+ 3A>T or G253E respectively, but their fetus was heterozygous only with IVS4+3A>T but without G253E, and so was a carrier as his father.

Conclusion: In the mainland of China, the prenatal gene diagnosis of OCA1 is reported for the first time.
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June 2006

Denaturing high-performance liquid chromatography technique platform applied to screen G6PD deficient variants.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2005 Dec;22(6):607-11

Medical Genetic Department, Basic Medical College, Sun Yat-sen University, Guangzhou, Guangdong, P. R. China.

Objective: Of denaturing high performance liquid chromatography (DHPLC), a technique platform was developed for screening G6PD deficient variants.

Methods: When applied to screen and identify the G6PD deficient variants from 124 patients who come from 11 nations in China, the DHPLC was compared with amplification refractory mutation system (ARMS) or DNA sequence technique and assessed carefully in its accuracy, sensitivity, efficiency and the cost of experiment.

Results: The G6PD-deficient variants, such as 1388 G-->A (36/124 cases), 1376 G-->T(35), 95 A-->G (14), 1024 C-->T (3), 392 G-->T (4), 871 G-->A /1311 C-->T /IVS XI +93 t-->c (9), 871 G-->A (1), 1311 C-->T/IVS XI +93 t-->c (4), 1376 G-->T /1388 G-->A (1) and so on, were characterized as sharp peaks by DHPLC and verified by DNA sequence. Further, the standard chromatograms were put into database for 8 kinds of common G6PD deficient variants in Chinese populations. And also DHPLC found 3 G6PD variants (1388 G-->A) from 103 negative controls. With taking 8.8 minutes and costing 1 dollar for each sample, DHPLC successfully detected and identified 34 heterozygous females from patients with G6PD deficiency. However, ARMS checked 83 positive controls but got 12 false G6PD mutants, of which 5 were false positive, 7 false negative. Above results show that DHPLC sounds like to be more convenience, sensitive and accurate than ARMS and DNA sequence techniques for checking G6PD mutants.

Conclusion: DHPLC is of great advantage to screen the G6PD deficient variants with accuracy, convenience, automation and less cost, and significantly to identify the female heterozygote and clinical type IV individuals with G6PD deficiency.
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December 2005

[Detection and analysis of the sub-types of -alpha3.7 in Chinese].

Yi Chuan 2003 Nov;25(6):649-51

Department of Medical Genetics, Zhongshan Medical College, SunYat-sen University, Guangzhou 510089, China.

-alpha3.7 is a common deletional alpha-thalassemia-2 in China. According to different recombination sites,-alpha3.7 can be divided into -alpha3.7I,-alpha3.7IIand -alpha3.7III. The frequency and population distribution of these -alpha3.7 are quite different. In this study,we detected 56 patients among Chinese population of -alpha3.7 defect in alpha globin gene by PCR method, then the PCR product was digested by the restriction enzyme ApalI and BalI. The sub-typing result shows that in the 56 cases of -alpha3.7 defect,54 out of 56 is -alpha3.7I,2 out of 56 is -alpha3.7II and none of -alpha3.7III is detected. This result enriches the data about the alpha thalassemia genotypes of Chinese people.
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November 2003

[Complex mutations of 1311 C-->T in exon 11 and 93 T-->C in intron 11 in G6PD gene].

Zhonghua Xue Ye Xue Za Zhi 2004 Oct;25(10):610-2

Department of Genetics, Medical School of Zhongshan University, Guangzhou 510080, China.

Objective: To investigate the relationship between complex 1311 mutation of C-->T in exon 11 and 93 T-->C in intron 11 of G6PD gene and the G6PD deficiency.

Methods: Using NBT paper strip method to screen and quantitative NBT method to confirm G6PD deficiency. PCR-SSCP technique was used to find the abnormal exon 11 and the amplification refractory mutation system (ARMS) to identify 1311 mutation, and DNA sequencing to identify the complex mutation at 1311 in exon 11 and 93 in intron 11.

Results: Abnormal band in exon 11 was found in 12 cases. DNA sequencing showed that they were 1311 mutation together with 93 mutation.

Conclusion: This complex mutation may be the cause of reduced activity of G6PD enzyme.
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October 2004

[Identification of G6PD gene variants from Hakka population in Guangdong province].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2004 Oct;21(5):448-51

Department of Medical Genetics, Zhongshan Medical College, Sun Yat-Sen University, Guangzhou, Guangdong, 510080 P.R.China.

Objective: Studying on G6PD polymorphism from Hakka population in Guangdong province.

Methods: Identifying the variants of G6PD gene and determining the frequencies respectively with the use of amplified refractory mutation system(ARMS), polymerase chain reaction-single strand conformation polymorphism(PCR-SSCP) and ABI 3100 DNA sequencing technologies.

Results: Mutations of G6PD gene in cDNA 1388 (G-->A), 1376 (G-->T), 95 (A-->G), 392 (G-->T), 1024 (C-->T), 1311 (C-->T) have been found.

Conclusion: G6PD cDNA 1388 (G-->A), 1376 (G-->T), 95(A--> G), 392 (G-->T), 1024 (C-->T) and 1311 (C-->T) accompanied with intron 11 (93 T-->C) are the common mutations in Chinese population. cDNA 1388 (G-->A), cDNA 1376 (G-->T) are the most popular G6PD gene variants in Hakka population. In this study, no new type of G6PD gene mutation was found in the Hakkas of Guangdong.
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October 2004

[Study on gene mutations of alpha-thalassemia in the South of China].

Zhongguo Shi Yan Xue Ye Xue Za Zhi 2003 Feb;11(1):54-60

Department of Medical Genetics, Sun Yat-sen Medical College, Sun Yat-sen University, Guangzhou 510089, China.

There is a high prevalence of thalassemia in the South of China. To explore the genotype of alpha-thalassemia as well as the distribution of alpha globin gene mutation in the South of China, 356 patients with heterozygote alpha(+) thalassemia, heterozygote alpha(0) or homozygote alpha(+) thalassemia and 78 patients with HbH were analyzed. The gene diagnosis methods including Gap-PCR, nested-PCR, PCR-RE, PCR-SSCP, 4P-ASPCR and DNA sequence analysis were used. The results showed that among 356 patients, 295 patients with --SEA/alphaalpha (82.87%), 1 patient with alphaalpha/alpha-alpha(3.7) (0.28%), 3 patients with alphaalpha/alpha-alpha(4.2) (0.84%), 3 patients with alphaalpha/alpha(CS)alpha (0.84%), 1 patient with alphaalpha/alphaalpha(QS) (0.28%) and 2 patients with alphaalpha/alpha(Westmead) alpha (0.56%) were found. The homozygote with -alpha(4.2) or -alpha(3.7) was not found. In 78 patients with HbH, 29 patients with --SEA/alphaalpha(-3.7) (37.2%), 20 patients with --SEA/alphaalpha(-4.2) (25.6%), 19 patients with --SEA/alphaalpha(CS) (24.3%), 2 patients with --SEA/alphaalpha(QS) (2.6%) were detected, and other remaiming 8 patients were needed to be defined. Among the non-defined 8 patients, the synonymous mutation with C-->G transversion (GCC-GCG) at codon 65 in the exon 2 of alpha 2-globin gene was detected in 2 unrelated HbH patients came from Guangxi province. Whether it correlated with the phenotype of HbH disease or it is only a single nucleotide polymorphism site (SNPs), should be confirmed in the future. In addition, a set of gene diagnosis methods based on PCR to screen deletion and non-deletion genotypes of alpha-thalassemia in Chinese was improved. A new method, 4P-ASPCR, to detect Hb CS and Hb QS was also developed. The method was verified to be more accurate, time-saving and economic. In conclusion, the genotypes of alpha-thalassemia in Chinese are very complicated, the genotypes of alpha-thalassemia in Chinese need to be further studied, the results of this research probably have practical significance for the gene diagnosis or antenatal diagnosis of alpha-thalassemia in the South of China.
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February 2003
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