在与弗里德赖希共济失调紧密连锁的D9S15内鉴定出一种高变微卫星多态性。
Identification of a hypervariable microsatellite polymorphism within D9S15 tightly linked to Friedrich's ataxia.
作者信息
Wallis J, Williamson R, Chamberlain S
机构信息
Department of Biochemistry and Molecular Genetics, St. Mary's Hospital Medical School, London, UK.
出版信息
Hum Genet. 1990 Jun;85(1):98-100. doi: 10.1007/BF00276331.
We have identified a hypervariable microsatellite sequence within the chromosome 9 marker MCT112 (D9S15), which we have previously shown to be tightly linked to Friedreich's ataxia (FRDA). The system detects 7 alleles ranging in size from 195 to 209 base pairs, and substantially increases informativity at the MCT112 locus. This enhances its use for genetic counselling in affected families. Recalculated combined linkage data between the FRDA locus and MCT112 gives a maximal lod score of 66.91 at a recombination fraction of theta = 0). There is no evidence of linkage disequilibrium.
我们在9号染色体标记MCT112（D9S15）内鉴定出一个高变微卫星序列，我们之前已证明该序列与弗里德赖希共济失调（FRDA）紧密连锁。该系统可检测到7个等位基因，大小在195至209个碱基对之间，并且显著提高了MCT112位点的信息性。这增强了其在受影响家庭的遗传咨询中的应用。重新计算的FRDA位点与MCT112之间的联合连锁数据在重组率θ = 0时给出的最大lod分数为66.91。没有连锁不平衡的证据。
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