Mornet E, Simon-Bouy B, Serre J L, Estivill X, Farrall M, Williamson R, Boue J, Boue A
Unit 73, Institut National de la Sante et de la Recherche Medicale, Paris, France.
Lancet. 1988 Feb 20;1(8582):376-8. doi: 10.1016/s0140-6736(88)91180-4.
41 families with cystic fibrosis, (CF) were tested for restriction fragment length polymorphisms (RFLPs) detected by four DNA probes all of which are tightly linked to the CF gene. 17 of the families had an affected child with, and 24 had one without, meconium ileus. In all cases, CF segregates with these gene probes; however, those with and those without meconium ileus differed in haplotype for CF chromosomes with respect to pJ3.11, which suggests that because of multiallelism (different mutations of the same locus) some CF patients present with meconium ileus and others do not.
对41个患有囊性纤维化（CF）的家庭进行了检测，以分析由四种DNA探针检测到的限制性片段长度多态性（RFLP），所有这些探针都与CF基因紧密连锁。其中17个家庭中有患胎粪性肠梗阻的患儿，24个家庭中则没有。在所有情况下，CF均与这些基因探针共分离；然而，有胎粪性肠梗阻和没有胎粪性肠梗阻的家庭，其CF染色体在pJ3.11单倍型上存在差异，这表明由于复等位基因现象（同一基因座的不同突变），一些CF患者会出现胎粪性肠梗阻，而另一些则不会。
