匿名的PAS45探针可检测13q31区域的限制性片段长度多态性（RFLP）。

The anonymous PAS45 probe detects RFLPs in 13q31.

作者信息

Gross M S, Sefiani A, de Tand M F, Lau Y F, Saidi-Mehtar N, Hors-Cayla M C, Frezal J, Van Cong N

机构信息

Unité de Recherches de Génétique Médicale, INSERM U-12, Hôpital des Enfants Malades, Paris, France.

出版信息

Ann Genet. 1989;32(2):73-7.

PMID:2569289

Abstract

An anonymous DNA probe PAS45 was isolated. This probe detects an RFLP with two alleles 1 and 2 at the same locus, with the different restriction enzymes (Bg1II, EcoRI, HindIII, PstI, MspI, XbaI). The observed polymorphism is explained by a chromosome rearrangement involving these enzyme cleavage sites. The frequency of alleles 1 and 2 was 0.875 and 0.125, respectively, in a sample of 48 unrelated individuals in France. Codominant inheritance of alleles 1 and 2 was demonstrated in 13 families with 30 offspring. The PAS45 probe was localized on chromosome 13 by somatic cell hybrid analysis and on 13q31 by in situ hybridization. The rearrangement on 13q31 is present in one out of four healthy individuals in France.

摘要

分离出了一个匿名DNA探针PAS45。该探针在同一基因座检测到一个具有两个等位基因1和2的限制性片段长度多态性（RFLP），使用不同的限制性内切酶（Bg1II、EcoRI、HindIII、PstI、MspI、XbaI）。观察到的多态性是由涉及这些酶切位点的染色体重排所解释的。在法国48名无关个体的样本中，等位基因1和2的频率分别为0.875和0.125。在13个有30个后代的家庭中证明了等位基因1和2的共显性遗传。通过体细胞杂交分析，PAS45探针定位在13号染色体上，通过原位杂交定位在13q31。法国四分之一的健康个体中存在13q31的重排。