Simon P, Brocas H, Baran D, van Geffel R, Rodesch F, Vassart G
Institut de Recherche Interdisciplinaire, Hopital Erasme, Brussels, Belgium.
Eur J Pediatr. 1988 Feb;147(2):199-201. doi: 10.1007/BF00442224.
Transmission of cystic fibrosis (CF) was studied in 36 families with at least one affected and one unaffected child. DNA was prepared from peripheral leukocytes and submitted to restriction fragment length polymorphism (RFLP) analysis with two CF probes (pj3.11 and met). Twenty families were shown to be informative so that accurate predictions could be made of the status of the offspring. Sixteen were only partially informative. The allele frequency was similar to that originally reported except for one Msp I site detected with the pj3.11 probe, for which we found a significantly higher heterozygote frequency, making it more informative than expected in our population sample. Pedigree analysis demonstrated no obligate recombinant between CF and the polymorphic markers.
对36个家庭进行了囊性纤维化（CF）的遗传传递研究，这些家庭中至少有一个患病儿童和一个未患病儿童。从外周血白细胞中提取DNA，并用两种CF探针（pj3.11和met）进行限制性片段长度多态性（RFLP）分析。结果显示，20个家庭具有信息性，从而能够准确预测后代的状况。16个家庭仅具有部分信息性。除了用pj3.11探针检测到的一个Msp I位点外，等位基因频率与最初报道的相似，我们发现该位点的杂合子频率显著更高，使其在我们的人群样本中比预期更具信息性。系谱分析表明，CF与多态性标记之间不存在必然的重组。
