Institut for Biomedicin

Lars Bolund

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

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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. / Kølvraa, Steen; Kruse, Torben A.; Jensen, P. K.A.; Linde, Kirsten H.; Vestergaard, Søren R.; Bolund, Lars.

I: Human Genetics, Bind 74, Nr. 3, 01.11.1986, s. 284-287.

Publikation: Bidrag til tidsskrift/Konferencebidrag i tidsskrift /Bidrag til avisTidsskriftartikelForskningpeer review

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Kølvraa, Steen ; Kruse, Torben A. ; Jensen, P. K.A. ; Linde, Kirsten H. ; Vestergaard, Søren R. ; Bolund, Lars. / 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. I: Human Genetics. 1986 ; Bind 74, Nr. 3. s. 284-287.

Bibtex

@article{43381e534de243219dc75cada08af17f,
title = "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",
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.",
author = "Steen K{\o}lvraa and Kruse, {Torben A.} and Jensen, {P. K.A.} and Linde, {Kirsten H.} and Vestergaard, {S{\o}ren R.} and Lars Bolund",
year = "1986",
month = nov,
day = "1",
doi = "10.1007/BF00282550",
language = "English",
volume = "74",
pages = "284--287",
journal = "Human Genetics",
issn = "0340-6717",
publisher = "Springer",
number = "3",

}

RIS

TY - JOUR

T1 - 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

AU - Kølvraa, Steen

AU - Kruse, Torben A.

AU - Jensen, P. K.A.

AU - Linde, Kirsten H.

AU - Vestergaard, Søren R.

AU - Bolund, Lars

PY - 1986/11/1

Y1 - 1986/11/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=0022903315&partnerID=8YFLogxK

U2 - 10.1007/BF00282550

DO - 10.1007/BF00282550

M3 - Journal article

C2 - 2877938

AN - SCOPUS:0022903315

VL - 74

SP - 284

EP - 287

JO - Human Genetics

JF - Human Genetics

SN - 0340-6717

IS - 3

ER -