KM-19和XV-2c DNA探针的连锁不平衡在一个高危囊性纤维化家庭遗传咨询中的应用价值
Usefulness of linkage disequilibrium of KM-19 and XV-2c DNA probes for genetic counselling in a high-risk CF family.
作者信息
Chomel J C, Haliassos A, Tesson L, Mathieu M, Kaplan J C, Kitzis A
机构信息
Laboratoire de Biochimie Génétique, CHU Cochin, Paris, France.
出版信息
Prenat Diagn. 1989 Apr;9(4):297-300. doi: 10.1002/pd.1970090410.
A French couple with an individual risk of carrying the cystic fibrosis (CF) mutation of 1/2 sought genetic counselling. From the DNA haplotypes generated by XV-2c and KM-19 RFLPs, it could be deduced that only one subject was a carrier, lowering the risk of having a CF baby from 1/16 to 1/200. The strong linkage disequilibrium between these RFLPs and the CF allele observed in France reduced the risk to 1/1600.
一对法国夫妇，其携带囊性纤维化（CF）突变的个体风险为1/2，他们寻求了遗传咨询。根据XV - 2c和KM - 19限制性片段长度多态性（RFLP）产生的DNA单倍型，可以推断出只有一方是携带者，从而将生出患CF婴儿的风险从1/16降低到1/200。在法国观察到的这些RFLP与CF等位基因之间的强连锁不平衡将风险降低到了1/1600。
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