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PMID: 2877938 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Close linkage between X-linked ectodermal dysplasia and a cloned DNA sequence detecting a two allele restriction fragment length polymorphism in the region Xp11-q12.

Human genetics ·Vol. 74 ·No. 3 ·1986-11-00 ·Pages 284-7

Kølvraa S, Kruse TA, Jensen PK, Linde KH, Vestergaard SR, Bolund L

Abstract

EDA (ectodermal dysplasia, anhidrotic) is an X-linked recessive disorder characterized by hypohidrosis, hypoor anodontia, and hypotrichosis. A possible linkage between the gene for EDA and a number of restriction fragment length polymorphisms (RFLPs) spread over the X chromosome was investigated in two Danish families segregating EDA. No recombination between the gene for EDA and our probe pTAK8, which detects a two allele polymorphism in the region Xp11-q12, was found in nine informative meiotic events (seven of which are phase known), giving a maximal lod score of 2.41 at a recombination fraction of 0.00. This juxtacentromeric location of the gene for EDA agrees well with the linkage data obtained with the other markers used in this study.

MeSH Terms
Adolescent Adult Alleles Child DNA, Recombinant Ectodermal Dysplasia/diagnosis,genetics Female Genetic Linkage Genetic Markers Humans Male Pedigree Polymorphism, Genetic Polymorphism, Restriction Fragment Length X Chromosome
Chemicals
DNA, Recombinant Genetic Markers
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Kølvraa S
Kruse T A
Jensen P K
Linde K H
Vestergaard S R
Bolund L
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23 references, click to expand
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Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00282550
Published
1986-11-00
Pages
284-7
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00282550 View journal details
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