Nemeti M, Louie E, Papp Z, Johnson J P
Division of Medical Genetics, Children's Hospital Oakland, CA 94609.
Hum Genet. 1991 Aug;87(4):511-2. doi: 10.1007/BF00197180.
Hungarian cystic fibrosis (CF) families (n = 33) including 114 family members have been analysed for the presence of the delta F508 mutation within the cystic fibrosis transmembrane conductance regulator (CFTR) gene, and have been haplotyped with probes for restriction fragment length polymorphisms (RFLPs) known to be linked to the CFTR gene. The delta F508 deletion was present in 64% of CF chromosomes. As in many other populations, linkage disequilibrium was found between the CF locus and the haplotype B (XV-2c: allele 1, KM-19: allele 2), which accounts for 95% of delta F508 CF chromosomes in our families.
对包括114名家庭成员的33个匈牙利囊性纤维化（CF）家族进行了分析，以检测囊性纤维化跨膜传导调节因子（CFTR）基因中是否存在ΔF508突变，并使用已知与CFTR基因连锁的限制性片段长度多态性（RFLP）探针进行单倍型分析。64%的CF染色体存在ΔF508缺失。与许多其他人群一样，在CF基因座与单倍型B（XV - 2c：等位基因1，KM - 19：等位基因2）之间发现了连锁不平衡，在我们的家族中，该单倍型占ΔF508 CF染色体的95%。
