雄激素源性脱发患者雄激素受体基因多态性分析  

Analysis Polymorphism of Androgen Receptor in Cases of Androgenetic Alopecia

作　　者：岂红娇[1] 王友信[2] 赵俊英[1] 王嵬[2] 

机构地区：[1]首都医科大学附属北京友谊医院皮肤性病科,北京100050 [2]首都医科大学公共卫生与家庭医学学院,北京100050

出　　处：《中国皮肤性病学杂志》2011年第3期174-176,共3页The Chinese Journal of Dermatovenereology

摘　　要：目的比较雄激素源性脱发(AGA)患者组和正常对照组雄激素受体(AR)上短串重复序列GGN(多聚甘氨酸)重复以及两个外显子非同义SNP(单核苷酸多态性,编码不同氨基酸)的差别。方法采集43例AGA患者及27例正常对照者外周血,提取全血DNA,GGN多聚三核苷酸片段由聚合酶链式反应扩增得到,通过基因测序获得GGN的重复数;应用Pyrosequencing技术测定选定的两个SNP(rs9332969和rs9332970,都位于AR第7外显子上)的基因频率进行统计学分析。结果 GGN三核苷酸重复数目在15～24间,根据GGN三核苷酸重复数目分为两组:GGN≤23和GGN>23,这两组比较,差异有统计学意义(P<0.05);所选SNPrs9332969在所观察样本中不存在A与G的差别,所有样本此位点均为G,SNPrs9332970在所观察的样本中不存在C与T的差别,所有样本此位点均为T。结论 AR上GGN序列重复数目的多态性与AGA有关,GGN重复数目≤23,则患脱发的几率显著增加;中国人群中可能并不存在这两个SNP位点:rs9332969及rs9332970,与NCBI的基因库中50%的结论有明显差异。Objective To illustrate the association of the polymorphisms of GGN repeats and two nosynonymous SNPs in AR （androgen receptor） between the androgenetie alopecia group and case-control group. Methods There were 43 androgenetic alopecia and 27 case-control males participated in this study. We extracted the DNA from the peripheral blood samples： GGN polytrinucleotide repeats segment were obtained from PCR （ polymerase chain reaction） , then GGN repeats length was obtained from sequencing. Two SNPs （ rs9332969 and rs9332970） were selected on exon7. The gene segments which covered the two SNPs were obtained through optimized polymerase chain reaction, and then the Pyrosequencing DNA Analysis System was applied to test and analysis the segment. The correlation between GGN repeat length, SNPs and androgenetic alopecia were assessed by statistical analysis with SPSS software. Results We found the number of GGN repeats were mainly between 15 - 24. We grouped the samples into two groups-GGN ≤23 or GGN 〉 23 （P 〈 0.05 ）. There were no polymorphism both in SNP rs9332969 and SNP rs9332970in our samples, base group of all samples on this site were G and T respectivecy. Conclusions Polymorphie length of GGN repeats is correlative to androgenetic alopecia in our samples. GGN repeats ≤ 23 is highly associated with androgetic alopecia. There are not these two SNPs： rs9332969 and rs9332970 among Chinese, that is a significant difference compared to 50% from GENBANK of NCBI.

关 键 词：雄激素源性脱发 雄激素受体 GGN三核苷酸重复序列 SNP 

分 类 号：R758.71[医药卫生—皮肤病学与性病学]