Pyper W, Burt M, Powell L, Webb S, Adès L, Halliday J, Jazwinska E
Queensland Institute of Medical Research, University of Queensland, Brisbane, Australia.
Hum Genet. 1995 Oct;96(4):490-2. doi: 10.1007/BF00191814.
D6S265 is a polymorphic dinucleotide repeat, mapped within 70 kb centromeric of HLA-A, on chromosome 6p21.3. While genotyping families for genetic linkage analysis, allele non-amplification resulting in apparent non-Mendelian inheritance was observed at the D6S265 locus in 15 individuals, on chromosomes carrying the HLA-A25 and HLA-A26 antigens. The D6S265 locus was sequenced in a variant individual homozygous for allele non-amplification, and in a non-HLA-A25/-A26 individual, homozygous for D6S265 allele 1. Five base changes were identified in the reverse primer binding region of the variant individual, effectively preventing annealing of the 3' primer to the template.
D6S265是一种多态性二核苷酸重复序列,定位于6号染色体p21.3上HLA - A着丝粒侧70 kb范围内。在对家族进行基因连锁分析的基因分型过程中,在携带HLA - A25和HLA - A26抗原的染色体上,15名个体的D6S265位点观察到等位基因不扩增现象,导致明显的非孟德尔遗传。对一名等位基因不扩增纯合的变异个体以及一名D6S265等位基因1纯合的非HLA - A25/-A26个体的D6S265位点进行了测序。在变异个体的反向引物结合区域鉴定出5个碱基变化,有效地阻止了3'引物与模板的退火。