Distribution of the D15Z1 copy number polymorphism
Distribution of the D15Z1 copy number polymorphism
Using fluorescent in situ hybridization (FISH) with the probe p15 (D15Z1), we investigated the distribution of the polymorphic 15p signal which has been reported to occur on acrocentric chromosomes in addition to chromosome 15. The short arm of chromosome 15 has a characteristic signal pattern when hybridized with the FISH probe D15Z1. However, the D15Z1 signal can occasionally be seen on the short arm of other acrocentric chromosomes. We studied the distribution of the D15Z1 probe in 1657 patients consisting both of individuals with a normal karyotype and those with a variety of chromosome abnormalities involving the acrocentric chromosomes. Our results show that one in six individuals, regardless of their patient ascertainment category or karyotypic status, had one or more additional D15Z1 signals, and that there were no significant differences in the distribution of extra signals among the patient groups.
in situ hybridization, abnormalities, genetic screening, human, chromosomes, pair 15, genetics, laboratories, dna, polymorphism, repetitive sequences, chromosome banding, arm, ultrastructure, humans, genetic markers, nucleic acid, dna probes, genetic, gene dosage, fluorescence, cross-sectional studies, genotype, patients, chromosome aberrations, karyotyping
441-445
Cockwell, A.E.
93580166-ddfd-4522-9b18-1919fd983d4d
Jacobs, P.A.
32993834-5b30-4706-a09b-640baf848c49
Crolla, J.A.
c5f23751-8de9-4a55-9cc5-ca2fb635769c
2007
Cockwell, A.E.
93580166-ddfd-4522-9b18-1919fd983d4d
Jacobs, P.A.
32993834-5b30-4706-a09b-640baf848c49
Crolla, J.A.
c5f23751-8de9-4a55-9cc5-ca2fb635769c
Cockwell, A.E., Jacobs, P.A. and Crolla, J.A.
(2007)
Distribution of the D15Z1 copy number polymorphism.
European Journal of Human Genetics, 15 (4), .
(doi:10.1038/sj.ejhg.5201780).
Abstract
Using fluorescent in situ hybridization (FISH) with the probe p15 (D15Z1), we investigated the distribution of the polymorphic 15p signal which has been reported to occur on acrocentric chromosomes in addition to chromosome 15. The short arm of chromosome 15 has a characteristic signal pattern when hybridized with the FISH probe D15Z1. However, the D15Z1 signal can occasionally be seen on the short arm of other acrocentric chromosomes. We studied the distribution of the D15Z1 probe in 1657 patients consisting both of individuals with a normal karyotype and those with a variety of chromosome abnormalities involving the acrocentric chromosomes. Our results show that one in six individuals, regardless of their patient ascertainment category or karyotypic status, had one or more additional D15Z1 signals, and that there were no significant differences in the distribution of extra signals among the patient groups.
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Published date: 2007
Keywords:
in situ hybridization, abnormalities, genetic screening, human, chromosomes, pair 15, genetics, laboratories, dna, polymorphism, repetitive sequences, chromosome banding, arm, ultrastructure, humans, genetic markers, nucleic acid, dna probes, genetic, gene dosage, fluorescence, cross-sectional studies, genotype, patients, chromosome aberrations, karyotyping
Identifiers
Local EPrints ID: 59585
URI: http://eprints.soton.ac.uk/id/eprint/59585
ISSN: 1018-4813
PURE UUID: d2eed641-cb6b-4336-ae91-87dbfd343a64
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Date deposited: 03 Sep 2008
Last modified: 15 Mar 2024 11:16
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Author:
A.E. Cockwell
Author:
P.A. Jacobs
Author:
J.A. Crolla
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