Construction of an Integrated Physical and Gene Map of Human Chromosome 20p12 Providing Candidate Genes for Alagille Syndrome

Physical mapping and localization of eSTS markers were used to generate an integrated physical and gene map covering a ∼10-Mb region of human chromosome 20p12 containing the Alagille syndrome (AGS) locus. Seventy-four STSs, 28 of which were derived from cDNA sequences, mapped with an average resolut...

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Bibliographic Details
Published in:Genomics (San Diego, Calif.) Calif.), 1997-06, Vol.42 (3), p.489-498
Main Authors: Pollet, Nicolas, Boccaccio, Claire, Dhorne-Pollet, Sophie, Driancourt, Catherine, Raynaud, Nicole, Auffray, Charles, Hadchouel, Michelle, Meunier-Rotival, Michèle
Format: Article
Language:English
Subjects:
Alagille Syndrome - genetics
Base Sequence
Biological and medical sciences
Chromosome Mapping
Chromosomes, Artificial, Yeast
Chromosomes, Human, Pair 20
Complex syndromes
DNA, Complementary
Genetic Markers
Humans
Life Sciences
Medical genetics
Medical sciences
Molecular Sequence Data
Restriction Mapping
Sequence Tagged Sites
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Summary:Physical mapping and localization of eSTS markers were used to generate an integrated physical and gene map covering a ∼10-Mb region of human chromosome 20p12 containing the Alagille syndrome (AGS) locus. Seventy-four STSs, 28 of which were derived from cDNA sequences, mapped with an average resolution of 135 kb. The 28 eSTS markers define 20 genes. Six known genes, namely CHGB, BMP2, PLCB1, PLCB4, SNAP, and HJ1, were precisely mapped. Among the genes identified, one maps in the smallest region of overlap of the deletions associated with AGS and could therefore be regarded as a candidate gene for Alagille syndrome.
ISSN:0888-7543
1089-8646
DOI:10.1006/geno.1997.4676