scholarly journals Genetic Analysis of the CYP2D6 Locus in a Hong Kong Chinese Population

2000 ◽  
Vol 46 (1) ◽  
pp. 18-23 ◽  
Author(s):  
Mercè Garcia-Barceló ◽  
Lok Yee Chow ◽  
Helen Fung Kum Chiu ◽  
Yun Kowk Wing ◽  
Dominic Tak Shing Lee ◽  
...  

Abstract Background: The cytochrome P450 CYP2D6 enzyme debrisoquine 4-hydroxylase metabolizes many different classes of commonly used drugs, such as tricyclic antidepressants and neuroleptics. Genetic polymorphism of the CYP2D6 gene is responsible for pronounced interindividual and interracial differences in the metabolism of these drugs. The CYP2D6*10 allele and its variants are the most frequent alleles found in Orientals, and they are responsible for diminished debrisoquine 4-hydroxylase activity because of the presence of a C188→T mutation in exon 1. Methods: One hundred nineteen Hong Kong Chinese subjects were genotyped by means of allele-specific PCR, PCR, and restriction enzyme analysis for 10 CYP2D6 alleles (CYP2D6*1, *2, *4D, *5, *8/*14, *10A, *10B, *15, *16, and J9). Results: CYP2D6*10B was the most prevalent allele, and CYP2D6*10/CYP2D6*10 was the most frequent genotype, representing 46.22% of the population. Conclusions: There was no significant difference in the prevalence of the alleles analyzed between our study and the Chinese populations genotyped previously. This is the largest study in terms of the number of CYP2D6 alleles analyzed in an Oriental population and the first one conducted in a Hong Kong Chinese population.

2019 ◽  
Vol 26 (1) ◽  
pp. 56-60
Author(s):  
Yi-Lok Charis Chan ◽  
Wei-Hei Dao ◽  
Tsang Yeung ◽  
Esther Ching-San Chow

Objective: To explore the prevalence and variations of toe symphalangism in the Hong Kong Chinese population. Methods: A retrospective review of foot radiographs taken in Chinese adult patients admitted to United Christian Hospital from 1 January, 2016 to 31 December, 2016. Exclusion criteria include (1) previous toe amputation, (2) skeletal immaturity, (3) severe deformity, and (4) repeated attendance. The frequencies were compared by χ 2 test. Result: A total of 1364 foot radiographs were reviewed. Six-hundred sixty radiographs were excluded. A total of 704 radiographs were included in this study. There were total 849 feet reviewed (left: 290, right: 269, bilateral: 145). Their mean age (± standard deviation) was 59.5 ± 14.2 years. The prevalence of 2nd, 3rd, 4th, and 5th toe symphalangism was 0.2%, 0.8%, 9.9%, and 76.7%, respectively. The prevalence resembles Asian population. There was no significant difference in the prevalence associated with the following factors: (1) gender and (2) left versus right foot. There was no 4th toe symphalangism without 5th toe involvement. In the 145 bilateral feet radiographs, asymmetrical distribution of toe symphalangism was found in 8.2%. Second toe symphalangism is rare (0.24%). Conclusion: This is the first study in Hong Kong to report prevalence of toe symphalangism in Chinese population. There is a high prevalence rate of 5th toe symphalangism in the Hong Kong Chinese Population. This implies less flexible lesser toes in the Chinese population with higher risks of development of deformities. The clinical implication of such findings needs further research.


2008 ◽  
Vol 22 (10) ◽  
pp. 714-716 ◽  
Author(s):  
M C S Wong ◽  
J Y Jiang ◽  
A T Lam ◽  
H Fung ◽  
S Griffiths ◽  
...  

Author(s):  
Razieh Alivand ◽  
Fatemeh Abdi ◽  
Mahmood Dehghani-Ashkezari ◽  
Hossein Neamatzadeh ◽  
Sedigheh Ekraminasab

Background: Recurrent miscarriage (RM) is one of the major problems of public health globally. The thrombin-activatable fibrinolysis inhibitor (TAFI) gene is a plasma zymogen that regulates both fibrinolysis and inflammation. Genetic variants within TAFI gene are presumed to be associated with development of RM. This case-control study aimed to investigate the association of TAFI +505A>G polymorphism with RM in Iranian women referred to Meybod Genetic Center. Methods: Fifty women with RM (at least 2 miscarriages) and 50 healthy women with no history of miscarriage or other fertility complications were participated in this study. The TAFI +505A>G polymorphism was genotyped by allele specific PCR (AS-PCR) assay. Results: The mean age of cases with RM and controls was 27.25 ± 4.31 and 28.42 ± 3.22 years, respectively. The frequency of GG genotype and G allele was 0.00% in patients and controls. There was no significant difference between RM cases and controls in terms of +505A>G genotypes and alleles. Conclusion: This study results indicated that there was no significant relationship between the TAFI +505A>G polymorphism and RM risk in Iranian women. However, further rigorous, studies with a larger sample size and different ethnicity are necessary to confirm our findings.


2019 ◽  
Vol 7 (1) ◽  
pp. 33-37
Author(s):  
Hakim Bahlok Jebur ◽  
Mirza Masroor ◽  
Hafiz Ahmad ◽  
Naushad Ahmad Khan ◽  
Juheb Akther ◽  
...  

BACKGROUND: C-reactive protein (CRP) is an inflammatory marker associated with T2DM, obesity, insulin resistance, and cardiovascular disease. AIM: The present study evaluates the association of CRP +1059 G/C polymorphism of the CRP gene in 100 T2D cases and 100 healthy controls. METHODS: Present study was done by allele specific PCR method to study the CRP gene polymorphism in study subjects. RESULTS: Study found that CRP (+1059 G/C) genotype distribution among case and controls was found to be significant (p=0.001), Higher CRP C allele frequency (0.16) was observed compared to controls (0.04). CRP +1059 GC and CC had 2.72 (1.12-6.61), 20.56 (1.16-362.1) risk for T2D. It has been observed, HTN, Obesity, Smoking and alcoholism was found to be associated with increased risk of T2D, and a significant difference was observed in biochemical parameters. CONCLUSION: Study concluded that CRP gene polymorphism was found to be associated with risk of Type 2 Diabetes and risk was linked with heterozygosity and mutant homozygosity. Hypertension, Obesity, Smoking and alcoholism increases the risk of occurrence of Type 2 Diabetes.


Blood ◽  
1993 ◽  
Vol 81 (3) ◽  
pp. 835-840 ◽  
Author(s):  
S Simsek ◽  
NM Faber ◽  
PM Bleeker ◽  
AB Vlekke ◽  
E Huiskes ◽  
...  

Abstract Platelets from 200 random Dutch blood donors were typed for the human platelet alloantigens HPA-1 to -5 recognized at present and for Naka. Naka is an epitope on glycoprotein IV, not expressed on the platelet of individuals with hereditary GP IV deficiency. Platelet immunofluorescence and monoclonal antibody-specific immobilization of platelet antigens (MAIPA) were applied for this purpose. The observed phenotype frequencies were 97.86% and 28.64% for HPA-1a and -1b, 100% and 13.15% for HPA-2a and -2b, 80.95% and 69.84% for HPA-3a and -3b, 100% and 0% for HPA-4a and -4b, 100% and 19.7% for HPA-5a and HPA-5b, respectively. Platelets from all donors reacted with the anti-Naka antibodies. To determine the gene frequencies for the HPA-1, HPA-2 and HPA-3 systems directly, DNA from 98 of these donors was isolated from peripheral blood mononuclear leucocytes and specific fragments were amplified by polymerase chain reaction (PCR). The fragments were analyzed using allele-specific restriction enzymes (ASRA). In all amplified PCR products an “internal control” for each assay, ie, a restriction site for the applied enzyme independent from the phenotype of the donor was present. In all donors tested, phenotypes, as determined by serological methods and genotypes, directly determined by the ASRA, were identical. Thus, the PCR-ASRA described in this report is a practical and reliable technique for the determination of alleles that code for platelet antigen allotypes, at least in the Dutch population.


Epilepsia ◽  
2008 ◽  
Vol 42 (1) ◽  
pp. 94-97 ◽  
Author(s):  
A. C. F. Hui ◽  
A. Tang ◽  
K. S. Wong ◽  
V. Mok ◽  
R. Kay

2007 ◽  
Vol 30 (5) ◽  
pp. 818-818 ◽  
Author(s):  
F. R. O. Calderon ◽  
L. Nelson ◽  
P. Dobrowolski ◽  
I. Sinitsyna ◽  
A. Phansalkar ◽  
...  

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