遗传 ›› 1998, Vol. 20 ›› Issue (4): 7-11.
敬慧娥; 张思仲; 肖翠英; 武辉 JING Hui-e;ZHANG Si-zhong;XIAO Cui-ying;WU Hui
摘要： 强直性肌营养不良症是由于MT-PK基因3'非编码区CTG三核苷酸重复序列的过度扩展所致。正常人群中CTG的拷贝数为5-30,而患者在50以上,且具民族差异。目前尚无我国羌族人群的有关资料。为了解中国羌族人群该基因3'UT R CTG三核苷重复序列的分布情况,作者采用PCR、聚丙烯酰胺凝胶电泳、银染和测序等技术,对60例正常羌族人的CTG重复序列进行了分析。共发现8种等位基因,其中CTG拷贝数为5的等位基因最为常见,占30 .83%,其余依次为13拷贝(22.5%)、12(19.17%)、11(15.83%)、14(5.83%)和15(4.17%);拷贝数大于15的等位基因极少,仅检测到一例,为27拷贝;CT G拷贝数在6-10之间的等位基因也很少,仅发现一例为9拷贝,而该等位基因在其它人群尚无报道。60名个体中共发现纯合子18例,其中9例为5/5,2例为11/11,2例为12/12,4例13/13和1例为15/15,杂合率为70%。本系统的多态信息量(PIC)为0.77。羌族和汉族人群该位点的多态性无显著差异。
Abstract:Myotonic dystrophy is associated with an increased number of CTG repeats in the 3’UTR of the myotonic protein kinase gene(MT-PK) located on chromosome 19q13.3.The triplet repeats region of the gene of 60 healthy Qiang subjects from Sichuan province was analyzed by polymerase chain reaction and polyacrylamide gel electrophoresis.A total of 8 alleles were found ranging in size from 5 to 27copies with the most common allele of 5 copies(30.83%).The other major alleles were 11,12 and 13 copies with frequency of 15.83%,19.17% and 22.5%,respectively.An allele of 9 copies was found in a Qiang individual which has never been reported before in other populations.Only 5.83% of alleles were longer than 14 copies and one longer than 15 copies.Heterozygote frequency in this population was 70%.The CTG repeats is highly informative with a PIC value of 0.77.There is no significant difference between Qiang and Han population in the distribution of the CTG allele frequencies.
www.chinagene.cn
备案号：京ICP备09063187号-4
总访问:,今日访问:,当前在线:
