低磷性佝偻病的三种DNA标记物。

Three DNA markers for hypophosphataemic rickets.

作者信息

Rowe P S, Read A P, Mountford R, Benham F, Kruse T A, Camerino G, Davies K E, O'Riordan J L

机构信息

Department of Medicine, University College and Middlesex Medical School, Middlesex Hospital, London, UK.

出版信息

Hum Genet. 1992 Jul;89(5):539-42. doi: 10.1007/BF00219180.

DOI:10.1007/BF00219180

PMID:1353055

Abstract

This paper presents three markers, 16D/E, pHMAI (DXS208), and CRI-L1391 (DXS274), that show close linkage for X-linked hypophosphataemic rickets (HYP). DXS274 is closely linked to HYP (theta max = 0.00, Zmax = 4.20), and DXS41 (99.6), (theta max = 0.00, Zmax = 5.20). Marker 16D/E maps distal to the disease locus (theta max = 0.05, Zmax = 3.11). The pHMAI probe recognises the same restriction fragment length polymorphism (RFLP) as 99.6. Multipoint analysis suggests that the most probable order of loci is Xpter-(DXS43, 16D/E)-HYP-DXS274-(DXS208, DXS41)-Xcen. The location of DXS274 distal to HYP cannot be excluded, as no recombinants were observed between DXS274 and HYP, or between DXS274 and DXS41/DXS208. One of the families contains a large number of recombinants, four of which are double recombinants. This most probably means that the disease in this family maps elsewhere on the X chromosome or on an autosome, indicating locus heterogeneity.

摘要

本文介绍了三个标记，即16D/E、pHMAI（DXS208）和CRI-L1391（DXS274），它们显示与X连锁低磷血症性佝偻病（HYP）紧密连锁。DXS274与HYP紧密连锁（最大重组值θ = 0.00，最大连锁值Z = 4.20），以及DXS41（99.6）（最大重组值θ = 0.00，最大连锁值Z = 5.20）。标记16D/E定位于疾病基因座的远端（最大重组值θ = 0.05，最大连锁值Z = 3.11）。pHMAI探针识别与99.6相同的限制性片段长度多态性（RFLP）。多点分析表明，基因座最可能的顺序是Xpter -（DXS43，16D/E）- HYP - DXS274 -（DXS208，DXS41）- Xcen。不能排除DXS274定位于HYP远端的情况，因为在DXS274与HYP之间，或DXS274与DXS41/DXS208之间未观察到重组体。其中一个家系包含大量重组体，其中四个是双重组体。这很可能意味着该家系中的疾病定位于X染色体上的其他位置或常染色体上，表明存在基因座异质性。