A YAC CONTIG AND AN EST MAP IN THE PERICENTROMERIC REGION OF CHROMOSOME-13 SURROUNDING THE LOCI FOR NEUROSENSORY NONSYNDROMIC DEAFNESS (DFNB1 AND DFNA3) AND LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE 2C (LGMD2C)

被引：24

作者：

GUILFORD, P

DODE, C

CROZET, F

BLANCHARD, S

CHAIB, H

LEVILLIERS, J

LEVIACOBAS, F

WEIL, D

WEISSENBACH, J

COHEN, D

LEPASLIER, D

KAPLAN, JC

PETIT, C

机构：

[1] INST PASTEUR, CNRS, URA 1968, UNITE GENET MOLEC HUMAINE, F-75724 PARIS 15, FRANCE

[2] UNIV PARIS 05, CHU COCHIN PORT ROYAL, BIOCHIM GENET LAB, F-75014 PARIS, FRANCE

[3] INST COCHIN GENET MOLEC, INSERM, U129, F-75014 PARIS, FRANCE

[4] GENETHON, F-91000 EVRY, FRANCE

[5] CTR ETUD POLYMORPHISME HUMAIN, F-75010 PARIS, FRANCE

来源：

GENOMICS | 1995年 / 29卷 / 01期

关键词：

D O I：

10.1006/geno.1995.1227

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

Two forms of inherited childhood nonsyndromic deafness (DFNB1 and DFNA3) and a Duchenne-like form of progressive muscular dystrophy (LGMD2C) have been mapped to the pericentromeric region of chromosome 13. To clone the genes responsible for these diseases we constructed a yeast artificial chromosome (YAC) contig spanning an 8-cM region between the polymorphic markers D13S175 and D13S221, The contig comprises 24 sequence-tagged sites, among which 15 were newly obtained. This contig allowed us to order the polymorphic markers centromere-D13S175 - D13S141 - D13S143 - D13S115 - AFM128yc1 - D13S292 - D13S283 - AFM323vh5 - D13S221 - telomere. Eight expressed sequence tags, previously assigned to 13q11-q12 (D13S182E, D13S183E, D13S502E, D13S504E, D13S505E, D13S837E, TUBA2, ATP1AL1), were localized on the YAC contig, YAC screening of a cDNA library derived from mouse cochlea allowed us to identify an alpha-tubulin gene (TUBA2) that was subsequently precisely mapped within the candidate region. (C) 1995 Academic Press, Inc.

引用

页码：163 / 169

页数：7

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