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韩国人群中4个X染色体短串联重复序列的遗传特征及群体研究:DXS9898存在无效等位基因的证据

Genetic characteristics and population study of 4 X-chromosomal STRs in Koreans: evidence for a null allele at DXS9898.

作者信息

Lee Hwan Young, Park Myung Jin, Jeong Chan Kwon, Lee Seon Yeong, Yoo Ji-Eun, Chung Ukhee, Choi Jong-Hoon, Kim Chong-Youl, Shin Kyoung-Jin

机构信息

Department of Forensic Medicine, College of Medicine, Yonsei University, 134 Shinchon-Dong, Seodaemun-Gu, 120-752 Seoul, Korea.

出版信息

Int J Legal Med. 2004 Dec;118(6):355-60. doi: 10.1007/s00414-004-0456-1. Epub 2004 Jun 8.

Abstract

The four X-chromosomal short tandem repeats (STRs), DXS9898, DXS6809, DXS7424 and DXS10011 were analyzed by single multiplex PCR in 150 male and 150 female Koreans. The loss of an allele at DXS9898 was observed in 13 out of 450 chromosomes (2.9%) and the PCR analysis showed that the X-chromosome with a null allele at DXS9898 has more than 1 kb deletion at the DXS9898 locus. Statistical analyses for these four X-STRs showed that they are highly informative for forensic application in Koreans. No linkage disequilibrium was observed among these four STRs and the previously reported five polymorphic STRs, HumARA, DXS101, GATA172D05, HPRTB and DXS8377 in Koreans. The test of homogeneity between allele frequencies revealed that there are some discrepancies in allele distributions between Koreans and Germans.

摘要

通过单重多重PCR对150名韩国男性和150名韩国女性的四个X染色体短串联重复序列(STR),即DXS9898、DXS6809、DXS7424和DXS10011进行了分析。在450条染色体中的13条(2.9%)上观察到DXS9898等位基因缺失,PCR分析表明,在DXS9898处具有无效等位基因的X染色体在DXS9898位点有超过1 kb的缺失。对这四个X-STR的统计分析表明,它们对韩国人的法医应用具有高度信息性。在韩国人中,这四个STR与先前报道的五个多态性STR,即HumARA、DXS101、GATA172D05、HPRTB和DXS8377之间未观察到连锁不平衡。等位基因频率的齐性检验表明,韩国人和德国人之间的等位基因分布存在一些差异。

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