1.Differences in reproductive endocrinology between Asian men and Caucasian men--a literature review.
Asian Journal of Andrology 2000;2(1):13-20
This review provides an overview of the literature on aspects of reproductive endocrinology wherein Asian men may differ from Caucasian, notably, prostatic neoplasm and the sensivity to pharmacological regimens of male contraception. Both genetic and environmental factors, such as nutrition, might be relevant. Asian men residing in Asia seem to be relatively protected from clinical prostatic neoplasm while the prevalence of preclinical prostatic neoplasm is not different. Migration to an area with a higher prevalence reduces this difference but does not undo it. With regard to prostatic neoplasm the following factors have been considered as relevant in Asian men: 1) a reduction in 5 alpha-reductase level, 2) decreased levels of androgenic ketosteroid precursors of 5 alpha-reduced androgen metabolites, 3) the decreased presence of a P53 mutation, 4) a higher CAG-repeat length of the androgen receptor, 5) a possible higher level of physical activity, 6) differences in sexual activity. Furthermore, Asian men respond to a higher degree with azoospermia in response to contraceptive steroids. Possible explanations offered for the more pronounced response to contraceptive steroids are: 1) differences in testicular structure and decreased spermatogenic potential, 2) an earlier and more marked suppression in LH secretion by exogenous androgens. The differences may be due to genetical and/or environmental factors influencing the peripheral testosterone metabolism. Dietary factors such as the higher intake of phytoestrogens in Asians might exert effects on 5 alpha-reductase activity and/or on sex hormone binding globulin (SHBG) levels, thus having an impact on the biological efficacy of circulating androgens.
Asian Continental Ancestry Group
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Environment
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Ethnic Groups
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European Continental Ancestry Group
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Humans
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Male
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Reproduction
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genetics
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physiology
2.Distribution of variant genotypes of Fc gamma receptor IIIa in healthy Chinese population of Zhengzhou City.
Jun, WANG ; Jianfei, FENG ; Li, ZHANG ; Yu, HU ; Bin, LUAN ; Weihai, YUE ; Hong, WANG ; Shaoxian, ZHU ; Yumei, XU
Journal of Huazhong University of Science and Technology (Medical Sciences) 2003;23(3):239-41
To investigate the distribution of variant genotypes of Fc gamma receptor IIIa (Fc gamma R IIIa) in healthy Chinese population of Zhengzhou city, genomic DNA was extracted from peripheral blood of healthy donators. The genotypes of Fc gamma R IIIa-158 were determined by nested polymerase chain reaction (PCR) in 137 healthy people in Zhengzhou city. The results showed that frequencies of variant genotypes FF, VV and VF were 42.3%, 48.9% and 8.8% respectively. The distribution of Fc gamma R IIIa-158 in healthy Chinese population of Zhengzhou city was polymorphic and different from that of African Americans (AA) and Caucasian Americans (CA).
Asian Continental Ancestry Group
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European Continental Ancestry Group
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Genotype
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Polymerase Chain Reaction
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*Polymorphism, Genetic
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Receptors, IgG/*genetics
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Variation (Genetics)
3.The investigation and analysis of the Rh blood type distribution in four kinds of the minority nationalities (Miao, Buyi, Dong and Shui) in Guizhou, China.
Qin-rui PAN ; Jiang ZHONG ; Yuan YANG ; Fang YU ; Qiang ZHOU ; Chun-li ZHONG
Chinese Journal of Medical Genetics 2006;23(5):571-573
OBJECTIVETo comprehend the Rh blood type distribution and the gene frequency in four main kinds of the minority nationalities in Guizhou, China, so as to supply a scientific foundation for guiding the prevention and cure against the Rh hemolysis illness.
METHODSThe irrelative individual blood of the four kinds of the minority nationalities (Miao, Buyi, Dong and Shui) in Guizhou was randomly collected in complete group style and the Rh blood type was identified and analyzed.
RESULTSTotally 15,992 minority nationality people were inspected and checked, and 4851 persons of Han nationality people were chosen as controls. Fifty-one persons were proven as Rh (D)negative individuals, in which, d gene frequency of Miao nationality population was 0.0474 and the Rh negative rate was 0.22%, d gene frequency of Buyi nationality population was 0.0602 and the Rh negative rate was 0.36%, d gene frequency of Dong nationality population was 0.0378 and the Rh negative rate was 0.14%, d gene frequency of Shui nationality population was 0.0307 and the Rh negative rate was 0.09%. d gene frequency of Han nationality population was 0.0574 and the Rh negative rate was 0.33%. In the four minority nationality populations, there was a common characteristic of the highest percentage of expressional type, CCDee type (52.47%-59.66%). At the same time, in the gene frequency of the four minority nationality populations, the CDe frequency was the highest: Miao nationality 0.7244, Buyi nationality 0.7389, Dong nationality 0.7410 and Shui nationality 0.7743.
CONCLUSIONThe Rh blood type distribution characteristic of the four minority nationality population, Miao, Dong, Buyi and Shui in Guizhou, is similar to that of the minority population in Southern China. The Rh negative rate of Miao, Dong and Shui nationality populations is lower than that of the Han nationality population(0.33%), only the Rh negative rate of Buiyi nationality population is closer or even higher than that of the Han nationality population. So that,the hemolysis illness frequency in the Rh newborn baby of Guizhou minority nationality population is not high.
Asian Continental Ancestry Group ; genetics ; China ; Gene Frequency ; Genotype ; Humans ; Rh-Hr Blood-Group System ; genetics
4.Investigation of the characteristics of Rh blood group of Uygur nationality in Xinjiang.
Jiong-Cai LAN ; Hua-You ZHOU ; Xu-Hua BAI ; Xiao-Ping CHEN ; Yan-Zhao XING
Journal of Experimental Hematology 2007;15(4):885-887
The study was to investigate the characteristics of Rh blood group of Uygur nationality in Xinjiang. 1 230 blood samples of Uygur nationality were studied by Rh serological typing, modified antiglobulin test, chloroform/trichloroethylene absorption elution test, upstream, downstream and hybrid Rhesus boxes, 10 exons of D gene, RHD(psi) pseudogene. The results showed that the frequency of RHD negative was 5.8%, and no Del type was found. The further investigation of 72 samples of RhD (-) found that ccee (57.02%) and Ccee (29.08%) phenotype as well as RHD(-)/RHD(-) genotype (94.44%) and complete deletion type of D gene exon (91.12%) were all in high frequency, no RHD(psi) pseudugene was detected. In conclusion, the Rh blood group of Uygurs nationality in Xinjiang possesses both oriental and caucasian Rh characteristics, which enriches the diversity of blood types in chinesenation.
Asian Continental Ancestry Group
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genetics
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China
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ethnology
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Gene Deletion
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Humans
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Rh-Hr Blood-Group System
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genetics
5.Distribution of variant genotypes of Fc gamma receptor IIIa in healthy Chinese population of Zhengzhou City.
Jun WANG ; Jianfei FENG ; Li ZHANG ; Yu HU ; Bin LUAN ; Weihai YUE ; Hong WANG ; Shaoxian ZHU ; Yumei XU
Journal of Huazhong University of Science and Technology (Medical Sciences) 2003;23(3):239-241
To investigate the distribution of variant genotypes of Fc gamma receptor IIIa (Fc gamma R IIIa) in healthy Chinese population of Zhengzhou city, genomic DNA was extracted from peripheral blood of healthy donators. The genotypes of Fc gamma R IIIa-158 were determined by nested polymerase chain reaction (PCR) in 137 healthy people in Zhengzhou city. The results showed that frequencies of variant genotypes FF, VV and VF were 42.3%, 48.9% and 8.8% respectively. The distribution of Fc gamma R IIIa-158 in healthy Chinese population of Zhengzhou city was polymorphic and different from that of African Americans (AA) and Caucasian Americans (CA).
Asian Continental Ancestry Group
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European Continental Ancestry Group
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Genetic Variation
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Genotype
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Humans
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Polymerase Chain Reaction
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Polymorphism, Genetic
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Receptors, IgG
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genetics
7.Comprehensive Variant Screening of the UGT Gene Family.
Jason Yongha KIM ; Hyun Sub CHEONG ; Byung Lae PARK ; Lyoung Hyo KIM ; Suhg NAMGOONG ; Ji On KIM ; Hae Deun KIM ; Young Hoon KIM ; Myeon Woo CHUNG ; Soon Young HAN ; Hyoung Doo SHIN
Yonsei Medical Journal 2014;55(1):232-239
PURPOSE: UGT1A1, UGT2B7, and UGT2B15 are well-known pharmacogenes that belong to the uridine diphosphate glucuronyltransferase gene family. For personalized drug treatment, it is important to study differences in the frequency of core markers across various ethnic groups. Accordingly, we screened single nucleotide polymorphisms (SNPs) of these three genes and analyzed differences in their frequency among five ethnic groups, as well as attempted to predict the function of novel SNPs. MATERIALS AND METHODS: We directly sequenced 288 subjects consisting of 96 Korean, 48 Japanese, 48 Han Chinese, 48 African American, and 48 European American subjects. Subsequently, we analyzed genetic variability, linkage disequilibrium (LD) structures and ethnic differences for each gene. We also conducted in silico analysis to predict the function of novel SNPs. RESULTS: A total of 87 SNPs were detected, with seven pharmacogenetic core SNPs and 31 novel SNPs. We observed that the frequencies of UGT1A1 *6 (rs4148323), UGT1A1 *60 (rs4124874), UGT1A1 *93 (rs10929302), UGT2B7 *2 (rs7439366), a part of UGT2B7 *3 (rs12233719), and UGT2B15 *2 (rs1902023) were different between Asian and other ethnic groups. Additional in silico analysis results showed that two novel promoter SNPs of UGT1A1 -690G>A and -689A>C were found to potentially change transcription factor binding sites. Moreover, 673G>A (UGT2B7), 2552T>C, and 23269C>T (both SNPs from UGT2B15) changed amino acid properties, which could cause structural deformation. CONCLUSION: Findings from the present study would be valuable for further studies on pharmacogenetic studies of personalized medicine and drug response.
Asian Continental Ancestry Group/genetics
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European Continental Ancestry Group/genetics
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Female
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Gene Frequency/genetics
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Glucuronosyltransferase/*genetics
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Haplotypes/genetics
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Humans
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Linkage Disequilibrium/genetics
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Male
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Polymorphism, Single Nucleotide/*genetics
8.Analysis on del detection of RhD (-) in unrelated blood donors.
Li-Li BIE ; Hong-Wei MA ; Zan CHEN ; Bo-Wei ZHANG
Journal of Experimental Hematology 2009;17(4):1071-1073
The study was aimed to analyze Del phenotype of RhD (-) unrelated blood donors. RhD (-) was initially screened by routine serological test and confirmed by indirect antiglobulin test (IAT). Del phenotype was detected by hot-ether absorption-elution test. The results indicated that 106 RhD (-) samples were confirmed out of 38526 donors, and 28 cases were Del detected by hot-ether absorption-elution test. The incidence of Del in RhD (-) samples was 26.41%, The serological phenotypes of Del were Ccee (78.57%), CCee (14.29%) and CcEe (7.14%) respectively. In conclusion, the detection of Del by using hot-ether absorption-elution test is very important for reasonable application of RhD (-) blood. There is difference in Del phenotypes of populations in different regions of China and Japan.
Asian Continental Ancestry Group
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Blood Donors
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Humans
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Phenotype
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Rh-Hr Blood-Group System
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genetics
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immunology
9.A case with a novel weak D type.
Yunlei HE ; Lu YU ; Deyi XU ; Wenyu GUO ; Gang DENG
Chinese Journal of Medical Genetics 2019;36(7):731-733
OBJECTIVE:
To report on a novel weak D type identified in a Chinese individual.
METHODS:
Peripheral blood sample was collected for a voluntary blood donor with weakened expression of D antigen. Routine serological testing was carried out to determine the D, C, c, E and e antigens of the Rh blood group. A D-screening kit was used to analyze the RhD epitopes. The 10 exons and flanking intronic regions of the RHD gene were sequenced. The zygosity of RHD was determined with a sequence-specific primer PCR method.
RESULTS:
A novel RHD allele, RHD (1022T>A), was found in the subject with a weak D phenotype. Serological testing of the RhD epitopes has coined with the weak D phenotype.
CONCLUSION
A novel weak D allele has been identified in Chinese population.
Alleles
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Asian Continental Ancestry Group
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China
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Exons
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Genotype
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Humans
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Introns
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Rh-Hr Blood-Group System
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genetics
10.Correlation of cardiac troponin T gene mutations to hypertrophic cardiomyopathy in Chinese patients.
Min LI ; Kuan CHENG ; Qi-bing WANG ; Wen-qing ZHU ; Rui-zhen CHEN ; Jun-bo GE ; Hao-zhu CHEN
Journal of Southern Medical University 2011;31(9):1589-1591
OBJECTIVETo study cardiac troponin T (TNNT2) gene mutations in Chinese patients with hypertrophic cardiomyopathy (HCM) and analyze the correlation between the genotype and phenotype.
METHODSNinety-five unrelated Chinese patients with HCM and 120 control individuals were screened for TNNT2 gene mutations. Seven exons (8, 9, 10, 11, 14, 15, and 16) in the functional regions of TNNT2 gene were amplified using PCR and the products were sequenced. The patients with positive results underwent further family screening.
RESULTS AND CONCLUSIONThis study did not find any HCM-caused mutations in TNNT2 gene, a result different from the reported rates of TNNT2 gene mutation ranging from 10% to 20% in other nations, suggesting that TNNT2 gene is not a susceptible gene for HCM in Chinese population.
Asian Continental Ancestry Group ; genetics ; Cardiomyopathy, Hypertrophic ; genetics ; Case-Control Studies ; Humans ; Mutation ; Troponin T ; genetics