1.HLA-DQA1, -DQB1 polymorphism distribution in Chinese womenwith pregnancy induced hypertension in Shanghai area
Yu MAO ; Zhenjun ZHANG ; Li'an FAN ; Qianyu WU ; Lihua JIANG ; Jueqin YANG ; Fangjuan YAO
Chinese Medical Journal 1998;111(2):163-165
Objective To explore the association of human leukocyte antigen (HLA) with pregnancy induced hypertension (PIH).Methods We oligotyped HLA-DQA1, -DQB1 locus of 30 Chinese PIH families and 14 control families in Shanghai area by polymerase chain reaction-sequence specific oligonucleotide (PCR-SSO) hybridization method (probes labeled by nonradioactive technique).Results Compared with the control group, the allelic frequency of HLA-DQB1*0502 was significantly higher in PIH couples, and the sharing of HLA-DQA1 increased in PIH couples as well. No difference was found in HLA-DQA1 allelic frequencies or HLA-DQB1 sharing between the two groups. Analysis of neither HLA-DQA1 nor HLA-DQB1 allelic frequencies in PIH patients and PIH mother-and-fetuses showed positive result.Conclusion HLA-DQB1*0502 may be a marker of susceptibility to PIH. DQB1*0502 itself or some gene(s) located in HLA class Ⅱ region and in linkage disequilibrium with 0502 affect maternal T cell immunity during pregnancy. The increase of compatibility in HLA-D region causes the production of blocking antibody to decrease.
2.Analysis on polymorphism in exons 2,3 and 4 of the MICA gene in three different Chinese populations.
Weijuan GONG ; Li'an FAN ; Jueqin YANG ; Lingdi XU ; Fangjuan YAO
Chinese Journal of Medical Genetics 2002;19(4):336-339
OBJECTIVETo detect genetic polymorphism in the exons 2 to 4 of the MICA gene in Chinese Han population in Shanghai, Dai population in Yunnan province and Uygur population in Xinjiang province respectively.
METHODSDNA samples from 183 random healthy individuals in Han population, 41 in Dai population and 66 in Uygur population were genotyped by using the polymerase chain reaction (PCR) and sequence-specific oligonucleotide probing (SSOP) method.
RESULTSIn total, 10, 7 and 9 alleles of MICA were observed in Han, Dai and Uygur population respectively. MICA*008 was the most common allele in the population of both Han and Uygur, whereas MICA*010 was the most popular one in Dai population. Han and Dai had a bit similar distribution pattern (Chi-square=12.809 P=0.046), in contrast with Han to Uygur (Chi-square=58.499 P=0) and Dai to Uygur (Chi-square=49.273 P=0).
CONCLUSIONMICA gene displayed different allele distributions in different populations.
Alleles ; China ; Exons ; genetics ; Gene Frequency ; Genotype ; Geography ; Haplotypes ; Histocompatibility Antigens Class I ; genetics ; Humans ; Linkage Disequilibrium ; Polymorphism, Genetic
3.Mixed connective tissue disease: a disease entity?
Nan SHEN ; Shunle CHEN ; Hutian YANG ; Li'an FAN
Chinese Medical Journal 1998;111(3):214-217
Objective To explicate whether mixed connective tissue disease (MCTD) is a distinct disease and evaluate the reliability of three different diagnostic criteria proposed by Sharp, Alarcon-Segovia and Kasukawa respectively.Methods Clinical follows-up of 50 MCTD patients lasted 2-8 years (80% >5 years). HLA-A, -B as well as -DR typing was performed by complemently dependent cytotocity assay. Autoantibody profile was detected by counterimmune electrophoresis (CIE).Results Thirteen (26.0%) of the 50 MCTD patients subsequently developed other connective tissue disease (OCTD), including 7 systemic lupus erythematosis (SLE), and 6 progressive systemic scleroderma (PSS). Among 23 of the MCTD patients fulfilling Sharp's criteria, 1(4.3%) developed PSS, but among 23 of the patients fulfilling Kasukawa's, not Sharp's, 7(30.4%) developed OCTD and among 27 of the patients fulfilling Alarcon-Segovia's, not Sharp's, 12(44.4%) developed OCTD. In the frequencies of DR4 and DR5, there were significant differences between patients fulfilling Sharp's (60.9%, 56.5%) and controls (24.3%, P<0.005, RR=4.7 and 21.4%, P<0.005, RR=4.6%), but there were no significant differences between the patients not fulfilling Sharp's and normal control (P>0.05).Conclusions MCTD is a distict rheumatic disease. Sharp's criteria is the most reliable for diagnosis of MCTD.