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Refined genetic localization for central core disease.

Abstract：

:Central core disease (CCO) is an autosomal dominant myopathy clinically distinct from malignant hyperthermia (MHS). In a large kindred in which the gene for CCO is segregating, two-point linkage analysis gave a maximum lod score, between the central core disease locus (CCO) and the ryanodine receptor locus (RYR1), of 11.8, with no recombination. Mutation within RYR1 is responsible for MHS, and RYR1 is also a candidate locus for CCO. A combination of physical mapping using a radiation-induced human-hamster hybrid panel and of multipoint linkage analysis using the Centre d'Etude du Polymorphisme Humain families established the marker order and sex-average map distances (in centimorgans) on the background map as D19S75-(5.2)-D19S9-(3.4)-D19S191-(2.2)-RYR1-(1.7)-D19S190-(1.6)-D19S47-(2.0)- CYP2B. Recombination was observed between CCO and the markers flanking RYR1. These linkage data are consistent with the hypothesis that CCO and RYR1 are allelic. The most likely position for CCO is near RYR1, with a multipoint lod score of 11.4, in 19q13.1 between D19S191 and D19S190, within the same interval as MHS (RYR1).

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Mulley JC,Kozman HM,Phillips HA,Gedeon AK,McCure JA,Iles DE,Gregg RG,Hogan K,Couch FJ,MacLennan DH

subject

Has Abstract,Author List Incomplete

pub_date

1993-02-01 00:00:00

pages

398-405

issue

2

eissn

0002-9297

issn

1537-6605

journal_volume

52

pub_type

杂志文章

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