Physical map of human Xq27-qter: Localizing the region of the fragile X mutation

Annemarie Poustka; Alexander Dietrich; Gaby Langenstein; Daniela Toniolo; Stephen T. Warren; Hans Lehrach

Physical map of human Xq27-qter: Localizing the region of the fragile X mutation

Annemarie Poustka, Alexander Dietrich, Gaby Langenstein, Daniela Toniolo, Stephen T. Warren, Hans Lehrach

IRCCS Ospedale San Raffaele

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

Abstract

We describe a physical map of the end of the long arm of the human X chromosome encompassing the region from Xq27.2 to the q telomere, inclusive of the chromosomal band Xq28. This region is of particular interest, since it contains the highest density of genes associated with genetic diseases. The map covers a total of 12 megabases (Mb) of DNA and extends from the telomere to 3 Mb beyond the most likely position of the fragile X mutation, defined by a cluster of translocation breakpoints in somatic cell hybrids. The map determines order and position of loci throughout the Xq28 region and localizes cell line breakpoints marking the fragile X region to an interval of 300-700 kiiobases between 8 and 8.7 Mb proximal of the Xq telomere.

Original language	English
Pages (from-to)	8302-8306
Number of pages	5
Journal	Proceedings of the National Academy of Sciences of the United States of America
Volume	88
Issue number	19
Publication status	Published - Oct 1 1991

Keywords

Pulsed-field gel map
Tetomere
X chromosome
Xq28

ASJC Scopus subject areas

General
Genetics

Cite this

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title = "Physical map of human Xq27-qter: Localizing the region of the fragile X mutation",

abstract = "We describe a physical map of the end of the long arm of the human X chromosome encompassing the region from Xq27.2 to the q telomere, inclusive of the chromosomal band Xq28. This region is of particular interest, since it contains the highest density of genes associated with genetic diseases. The map covers a total of 12 megabases (Mb) of DNA and extends from the telomere to 3 Mb beyond the most likely position of the fragile X mutation, defined by a cluster of translocation breakpoints in somatic cell hybrids. The map determines order and position of loci throughout the Xq28 region and localizes cell line breakpoints marking the fragile X region to an interval of 300-700 kiiobases between 8 and 8.7 Mb proximal of the Xq telomere.",

keywords = "Pulsed-field gel map, Tetomere, X chromosome, Xq28",

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T1 - Physical map of human Xq27-qter

T2 - Localizing the region of the fragile X mutation

AU - Poustka, Annemarie

AU - Dietrich, Alexander

AU - Langenstein, Gaby

AU - Toniolo, Daniela

AU - Warren, Stephen T.

AU - Lehrach, Hans

PY - 1991/10/1

Y1 - 1991/10/1

N2 - We describe a physical map of the end of the long arm of the human X chromosome encompassing the region from Xq27.2 to the q telomere, inclusive of the chromosomal band Xq28. This region is of particular interest, since it contains the highest density of genes associated with genetic diseases. The map covers a total of 12 megabases (Mb) of DNA and extends from the telomere to 3 Mb beyond the most likely position of the fragile X mutation, defined by a cluster of translocation breakpoints in somatic cell hybrids. The map determines order and position of loci throughout the Xq28 region and localizes cell line breakpoints marking the fragile X region to an interval of 300-700 kiiobases between 8 and 8.7 Mb proximal of the Xq telomere.

AB - We describe a physical map of the end of the long arm of the human X chromosome encompassing the region from Xq27.2 to the q telomere, inclusive of the chromosomal band Xq28. This region is of particular interest, since it contains the highest density of genes associated with genetic diseases. The map covers a total of 12 megabases (Mb) of DNA and extends from the telomere to 3 Mb beyond the most likely position of the fragile X mutation, defined by a cluster of translocation breakpoints in somatic cell hybrids. The map determines order and position of loci throughout the Xq28 region and localizes cell line breakpoints marking the fragile X region to an interval of 300-700 kiiobases between 8 and 8.7 Mb proximal of the Xq telomere.

KW - Pulsed-field gel map

KW - Tetomere

KW - X chromosome

KW - Xq28

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Physical map of human Xq27-qter: Localizing the region of the fragile X mutation

Abstract

Keywords

ASJC Scopus subject areas

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