Refinement of the multiple exostoses locus (EXT2) to a 3-cM interval on chromosome 11

W Wuyts; S Ramlakhan; W Van Hul; J T Hecht; A M van den Ouweland; W H Raskind; F C Hofstede; E Reyniers; D E Wells; B de Vries

Refinement of the multiple exostoses locus (EXT2) to a 3-cM interval on chromosome 11

W Wuyts, S Ramlakhan, W Van Hul, J T Hecht, A M van den Ouweland, W H Raskind, F C Hofstede, E Reyniers, D E Wells, B de Vries

Research output: Contribution to journal › Article › Academic › peer-review

Abstract

Hereditary multiple exostoses (EXT) is an autosomal dominant skeletal disorder characterized by the formation of multiple exostoses on the long bones. EXT is genetically heterogeneous, with at least three loci involved: one (EXT1) in the Langer-Giedion region on 8q23-q24, a second (EXT2) in the pericentromeric region of chromosome 11, and a third (EXT3) on chromosome 19p. In this study, linkage analysis in seven extended EXT families, all linked to the EXT2 locus, refined the localization of the EXT2 gene to a 3-cM region flanked by D11S1355 and D11S1361/D11S554. This implies that the EXT2 gene is located at the short arm of chromosome 11, in band 11p11-p12. The refined localization of EXT2 excludes a number of putative candidate genes located in the pericentromeric region of chromosome 11 and facilitates the process of isolating the EXT2 gene.

Original language	English
Pages (from-to)	382-387
Number of pages	6
Journal	American Journal of Human Genetics
Volume	57
Issue number	2
Publication status	Published - Aug 1995
Externally published	Yes

Keywords

Chromosomes, Human, Pair 11
Exostoses, Multiple Hereditary/genetics
Genetic Linkage
Humans
Lod Score
Pedigree

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https://pmc.ncbi.nlm.nih.gov/articles/PMC1801560/

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@article{fcc98c51b20746f8b78c64d240bbf211,

title = "Refinement of the multiple exostoses locus (EXT2) to a 3-cM interval on chromosome 11",

abstract = "Hereditary multiple exostoses (EXT) is an autosomal dominant skeletal disorder characterized by the formation of multiple exostoses on the long bones. EXT is genetically heterogeneous, with at least three loci involved: one (EXT1) in the Langer-Giedion region on 8q23-q24, a second (EXT2) in the pericentromeric region of chromosome 11, and a third (EXT3) on chromosome 19p. In this study, linkage analysis in seven extended EXT families, all linked to the EXT2 locus, refined the localization of the EXT2 gene to a 3-cM region flanked by D11S1355 and D11S1361/D11S554. This implies that the EXT2 gene is located at the short arm of chromosome 11, in band 11p11-p12. The refined localization of EXT2 excludes a number of putative candidate genes located in the pericentromeric region of chromosome 11 and facilitates the process of isolating the EXT2 gene.",

keywords = "Chromosomes, Human, Pair 11, Exostoses, Multiple Hereditary/genetics, Genetic Linkage, Humans, Lod Score, Pedigree",

author = "W Wuyts and S Ramlakhan and {Van Hul}, W and Hecht, {J T} and {van den Ouweland}, {A M} and Raskind, {W H} and Hofstede, {F C} and E Reyniers and Wells, {D E} and {de Vries}, B",

year = "1995",

month = aug,

language = "English",

volume = "57",

pages = "382--387",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Cell Press",

number = "2",

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TY - JOUR

T1 - Refinement of the multiple exostoses locus (EXT2) to a 3-cM interval on chromosome 11

AU - Wuyts, W

AU - Ramlakhan, S

AU - Van Hul, W

AU - Hecht, J T

AU - van den Ouweland, A M

AU - Raskind, W H

AU - Hofstede, F C

AU - Reyniers, E

AU - Wells, D E

AU - de Vries, B

PY - 1995/8

Y1 - 1995/8

N2 - Hereditary multiple exostoses (EXT) is an autosomal dominant skeletal disorder characterized by the formation of multiple exostoses on the long bones. EXT is genetically heterogeneous, with at least three loci involved: one (EXT1) in the Langer-Giedion region on 8q23-q24, a second (EXT2) in the pericentromeric region of chromosome 11, and a third (EXT3) on chromosome 19p. In this study, linkage analysis in seven extended EXT families, all linked to the EXT2 locus, refined the localization of the EXT2 gene to a 3-cM region flanked by D11S1355 and D11S1361/D11S554. This implies that the EXT2 gene is located at the short arm of chromosome 11, in band 11p11-p12. The refined localization of EXT2 excludes a number of putative candidate genes located in the pericentromeric region of chromosome 11 and facilitates the process of isolating the EXT2 gene.

AB - Hereditary multiple exostoses (EXT) is an autosomal dominant skeletal disorder characterized by the formation of multiple exostoses on the long bones. EXT is genetically heterogeneous, with at least three loci involved: one (EXT1) in the Langer-Giedion region on 8q23-q24, a second (EXT2) in the pericentromeric region of chromosome 11, and a third (EXT3) on chromosome 19p. In this study, linkage analysis in seven extended EXT families, all linked to the EXT2 locus, refined the localization of the EXT2 gene to a 3-cM region flanked by D11S1355 and D11S1361/D11S554. This implies that the EXT2 gene is located at the short arm of chromosome 11, in band 11p11-p12. The refined localization of EXT2 excludes a number of putative candidate genes located in the pericentromeric region of chromosome 11 and facilitates the process of isolating the EXT2 gene.

KW - Chromosomes, Human, Pair 11

KW - Exostoses, Multiple Hereditary/genetics

KW - Genetic Linkage

KW - Humans

KW - Lod Score

KW - Pedigree

M3 - Article

C2 - 7668264

SN - 0002-9297

VL - 57

SP - 382

EP - 387

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 2

ER -

Refinement of the multiple exostoses locus (EXT2) to a 3-cM interval on chromosome 11

Abstract

Keywords

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