DEVELOPMENT AND PHYSICAL ANALYSIS OF YAC CONTIGS COVERING 7-MB OF XP22.3-P22.2

被引：17

作者：

HERRELL, S ^{[1
]}

NOVO, FJ ^{[1
]}

CHARLTON, R ^{[1
]}

AFFARA, NA ^{[1
]}

机构：

[1] UNIV CAMBRIDGE,DEPT PATHOL,CAMBRIDGE CB2 1QP,ENGLAND

来源：

GENOMICS | 1995年 / 25卷 / 02期

基金：

英国惠康基金;

关键词：

D O I：

10.1016/0888-7543(95)80054-P

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：

A total of 54 YAC clones have been isolated from the region of Xp22.2-p22.3 extending from the amelogenin gene locus to DXS31. Restriction analysis of these clones in association with STS contenting and end clone analysis has facilitated the construction of 6 contigs covering a total of 7 Mb in which 20 potential CPG islands have been located. Thirty new STSs have been developed from probe and YAC end clone sequences, and these have been used in the analysis of patients suffering from different combinations of chondrodysplasia punctata, mental retardation, X-linked ichthyosis, and Kallmann syndrome. The results suggest that (1) the gene for chondrodysplasia punctata must lie between the X chromosome pseudoautosomal boundary (PABX) and DXS1145; (2) a gene for mental retardation lies between DXS1145 and the sequence tagged site GS1; and (3) the gene for ocular albinism type 1 lies proximal to the STS G13. The CpG islands within the YAC contigs constitute valuable markers for the potential positions of genes. Genes found associated with any of these potential CpG islands would be possible candidates for the disease genes mentioned above. (C) 1995 Academic Press, Inc.

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页码：526 / 537

页数：12

相关论文

共 47 条

[1] MAPPING THE TESTIS DETERMINANTS BY AN ANALYSIS OF Y-SPECIFIC SEQUENCES IN MALES WITH APPARENT XX AND XO KARYOTYPES AND FEMALES WITH XY KARYOTYPES [J].

AFFARA, NA ;

FERGUSONSMITH, MA ;

MAGENIS, RE ;

TOLMIE, JL ;

BOYD, E ;

COOKE, A ;

JAMIESON, D ;

KWOK, K ;

MITCHELL, M ;

SNADDEN, L .

NUCLEIC ACIDS RESEARCH, 1987, 15 (18) :7325-7342

[2] REGIONAL ASSIGNMENT OF Y-LINKED DNA PROBES BY DELETION MAPPING AND THEIR HOMOLOGY WITH X-CHROMOSOME AND AUTOSOMAL SEQUENCES [J].

AFFARA, NA ;

FLORENTIN, L ;

MORRISON, N ;

KWOK, K ;

MITCHELL, M ;

COOK, A ;

JAMIESON, D ;

GLASGOW, L ;

MEREDITH, L ;

BOYD, E ;

FERGUSONSMITH, MA .

NUCLEIC ACIDS RESEARCH, 1986, 14 (13) :5353-5373

[3] CONSTRUCTION AND CHARACTERIZATION OF A YEAST ARTIFICIAL CHROMOSOME LIBRARY CONTAINING 7 HAPLOID HUMAN GENOME EQUIVALENTS [J].

ALBERTSEN, HM ;

ABDERRAHIM, H ;

CANN, HM ;

DAUSSET, J ;

LEPASLIER, D ;

COHEN, D .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1990, 87 (11) :4256-4260

[4] A 3.5 GENOME EQUIVALENT MULTIACCESS YAC LIBRARY - CONSTRUCTION, CHARACTERIZATION, SCREENING AND STORAGE [J].

ANAND, R ;

RILEY, JH ;

BUTLER, R ;

SMITH, JC ;

MARKHAM, AF .

NUCLEIC ACIDS RESEARCH, 1990, 18 (08) :1951-1956

[5]

ARVEILER B, 1991, Technique (Philadelphia), V3, P24

[6] ISOLATION AND CHARACTERIZATION OF A STEROID SULFATASE CDNA CLONE - GENOMIC DELETIONS IN PATIENTS WITH X-CHROMOSOME-LINKED ICHTHYOSIS [J].

BALLABIO, A ;

PARENTI, G ;

CARROZZO, R ;

SEBASTIO, G ;

ANDRIA, G ;

BUCKLE, V ;

FRASER, N ;

CRAIG, I ;

ROCCHI, M ;

ROMEO, G ;

JOBSIS, AC ;

PERSICO, MG .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1987, 84 (13) :4519-4523

[7] 2 FAMILIES OF LOW-COPY-NUMBER REPEATS ARE INTERSPERSED ON XP22.3 - IMPLICATIONS FOR THE HIGH-FREQUENCY OF DELETIONS IN THIS REGION [J].

BALLABIO, A ;

BARDONI, B ;

GUIOLI, S ;

BASLER, E ;

CAMERINO, G .

GENOMICS, 1990, 8 (02) :263-270

[8] CONTIGUOUS GENE SYNDROMES DUE TO DELETIONS IN THE DISTAL SHORT ARM OF THE HUMAN X-CHROMOSOME [J].

BALLABIO, A ;

BARDONI, B ;

CARROZZO, R ;

ANDRIA, G ;

BICK, D ;

CAMPBELL, L ;

HAMEL, B ;

FERGUSONSMITH, MA ;

GIMELLI, G ;

FRACCARO, M ;

MARASCHIO, P ;

ZUFFARDI, O ;

GUIOLI, S ;

CAMERINO, G .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1989, 86 (24) :10001-10005

[9]

Ballabio Andrea, 1992, Human Molecular Genetics, V1, P221, DOI 10.1093/hmg/1.4.221

[10] CLONING OF A CDNA FOR STEROID SULFATASE - FREQUENT OCCURRENCE OF GENE DELETIONS IN PATIENTS WITH RECESSIVE X-CHROMOSOME-LINKED ICHTHYOSIS [J].

BONIFAS, JM ;

MORLEY, BJ ;

OAKEY, RE ;

KAN, YW ;

EPSTEIN, EH .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1987, 84 (24) :9248-9251

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