Linkage analysis with RFLPs in families with androgen resistance syndromes: evidence for close linkage between the androgen receptor locus and the DXS1 segment

Peter Wieacker, Jim Griffin III, Thomas Wienker, James M. Lopez, Jean D. Wilson, Meinert Breckwoldt

Research output: Contribution to journalArticle

32 Citations (Scopus)

Abstract

Three families with androgen resistance syndromes - two with testicular feminization and one with Reifenstein syndrome - have been studied for linkage analysis. Using three cloned DNA sequences from the centromere region and the proximal long arm of the X chromosome (p8, pDP34, and S9, which define respectively the chromosomal segments DXS1, DXYS1, and DXS17), we found no recombination between the DXS1 locus and the mutant genes in the three families. Assuming that these disorders are the result of allelic mutations at the same locus for the androgen receptor, we can conclude that there is a close linkage between DXS1 and the androgen receptor locus, with a maximum lod score ž=3.5 at a recombination fraction θ=0.0 using the LIPED program (Ott 1974).

Original languageEnglish (US)
Pages (from-to)248-252
Number of pages5
JournalHuman Genetics
Volume76
Issue number3
DOIs
StatePublished - Jul 1987

Fingerprint

Androgen-Insensitivity Syndrome
Androgen Receptors
Restriction Fragment Length Polymorphisms
Genetic Recombination
Lod Score
Centromere
X Chromosome
Mutation
Genes

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Linkage analysis with RFLPs in families with androgen resistance syndromes : evidence for close linkage between the androgen receptor locus and the DXS1 segment. / Wieacker, Peter; Griffin III, Jim; Wienker, Thomas; Lopez, James M.; Wilson, Jean D.; Breckwoldt, Meinert.

In: Human Genetics, Vol. 76, No. 3, 07.1987, p. 248-252.

Research output: Contribution to journalArticle

Wieacker, Peter ; Griffin III, Jim ; Wienker, Thomas ; Lopez, James M. ; Wilson, Jean D. ; Breckwoldt, Meinert. / Linkage analysis with RFLPs in families with androgen resistance syndromes : evidence for close linkage between the androgen receptor locus and the DXS1 segment. In: Human Genetics. 1987 ; Vol. 76, No. 3. pp. 248-252.
@article{ff2e51ac5f9b4122bd083a7a2f7251bf,
title = "Linkage analysis with RFLPs in families with androgen resistance syndromes: evidence for close linkage between the androgen receptor locus and the DXS1 segment",
abstract = "Three families with androgen resistance syndromes - two with testicular feminization and one with Reifenstein syndrome - have been studied for linkage analysis. Using three cloned DNA sequences from the centromere region and the proximal long arm of the X chromosome (p8, pDP34, and S9, which define respectively the chromosomal segments DXS1, DXYS1, and DXS17), we found no recombination between the DXS1 locus and the mutant genes in the three families. Assuming that these disorders are the result of allelic mutations at the same locus for the androgen receptor, we can conclude that there is a close linkage between DXS1 and the androgen receptor locus, with a maximum lod score ž=3.5 at a recombination fraction θ=0.0 using the LIPED program (Ott 1974).",
author = "Peter Wieacker and {Griffin III}, Jim and Thomas Wienker and Lopez, {James M.} and Wilson, {Jean D.} and Meinert Breckwoldt",
year = "1987",
month = "7",
doi = "10.1007/BF00283617",
language = "English (US)",
volume = "76",
pages = "248--252",
journal = "Human Genetics",
issn = "0340-6717",
publisher = "Springer Verlag",
number = "3",

}

TY - JOUR

T1 - Linkage analysis with RFLPs in families with androgen resistance syndromes

T2 - evidence for close linkage between the androgen receptor locus and the DXS1 segment

AU - Wieacker, Peter

AU - Griffin III, Jim

AU - Wienker, Thomas

AU - Lopez, James M.

AU - Wilson, Jean D.

AU - Breckwoldt, Meinert

PY - 1987/7

Y1 - 1987/7

N2 - Three families with androgen resistance syndromes - two with testicular feminization and one with Reifenstein syndrome - have been studied for linkage analysis. Using three cloned DNA sequences from the centromere region and the proximal long arm of the X chromosome (p8, pDP34, and S9, which define respectively the chromosomal segments DXS1, DXYS1, and DXS17), we found no recombination between the DXS1 locus and the mutant genes in the three families. Assuming that these disorders are the result of allelic mutations at the same locus for the androgen receptor, we can conclude that there is a close linkage between DXS1 and the androgen receptor locus, with a maximum lod score ž=3.5 at a recombination fraction θ=0.0 using the LIPED program (Ott 1974).

AB - Three families with androgen resistance syndromes - two with testicular feminization and one with Reifenstein syndrome - have been studied for linkage analysis. Using three cloned DNA sequences from the centromere region and the proximal long arm of the X chromosome (p8, pDP34, and S9, which define respectively the chromosomal segments DXS1, DXYS1, and DXS17), we found no recombination between the DXS1 locus and the mutant genes in the three families. Assuming that these disorders are the result of allelic mutations at the same locus for the androgen receptor, we can conclude that there is a close linkage between DXS1 and the androgen receptor locus, with a maximum lod score ž=3.5 at a recombination fraction θ=0.0 using the LIPED program (Ott 1974).

UR - http://www.scopus.com/inward/record.url?scp=0023190335&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0023190335&partnerID=8YFLogxK

U2 - 10.1007/BF00283617

DO - 10.1007/BF00283617

M3 - Article

C2 - 2885254

AN - SCOPUS:0023190335

VL - 76

SP - 248

EP - 252

JO - Human Genetics

JF - Human Genetics

SN - 0340-6717

IS - 3

ER -