Cui X, Li H
Coriell Institute for Medical Research, Camden, NJ 08103, USA.
Hum Genet. 1997 Jul;100(1):96-100. doi: 10.1007/s004390050472.
To address the challenging issue of distinguishing allelic and interlocus differences among repetitive sequences, human immunoglobulin VH4 loci in the parental haplotypes of 13 donors were determined by analyzing single spermatozoa. VH4 sequences detected among these donors were assigned to their corresponding loci based on the fact that allelic sequences usually segregate into different gametes. Four out of the ten VH4 loci were shown to contain null alleles that are undetectable with diploid materials. The distribution of the allelic variation within the analyzed regions at the VH4 loci is highly biased.
为解决区分重复序列中等位基因差异和基因座间差异这一具有挑战性的问题，通过分析单个精子确定了13名供体亲代单倍型中的人类免疫球蛋白VH4基因座。基于等位基因序列通常会分离到不同配子这一事实，将这些供体中检测到的VH4序列分配到其相应的基因座。在十个VH4基因座中，有四个被证明含有用二倍体材料无法检测到的无效等位基因。VH4基因座分析区域内等位基因变异的分布存在高度偏差。
