Chomel J C, Haliassos A, Tesson L, Mathieu M, Kaplan J C, Kitzis A
Laboratoire de Biochimie Génétique, CHU Cochin, Paris, France.
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。
