TOWARDS IDENTIFICATION OF X-LINKED MENTAL-RETARDATION GENES - A PROPOSAL

被引：11

作者：

MANDEL, JL ^{[1
]}

机构：

[1] CTR HOSP REG UNIV STRASBOURG,F-67085 STRASBOURG,FRANCE

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1994年 / 51卷 / 04期

关键词：

X-LINKED MENTAL RETARDATION; GENE IDENTIFICATION; CELL LINE REPOSITORY;

D O I：

10.1002/ajmg.1320510452

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Identification of X linked mental retardation (XLMR) genes that can only be broadly localised by linkage analysis will ultimately depend on systematic screening of many probands for mutations in many candidate genes. This would be more efficiently performed by analysis of mRNA (or illegitimate transcripts) by reverse transcriptase-polymerase chain reaction (RT-PCR). A scheme is proposed that associates standardized reporting of XLMR families, including small families that would not by themselves yield statistically significant linkage information, and deposit of a lymphoblastoid cell line for one proband of each family to an accessible repository. (C) 1994 Wiley-Liss, Inc.

引用

页码：550 / 552

页数：3

共 23 条

[1] COMPUTERIZED APPROACH TO X-LINKED MENTAL-RETARDATION SYNDROMES [J].

ARENA, JF ;

LUBS, HA .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1991, 38 (2-3) :190-199

[2]

BACH I, 1992, HUM GENET, V89, P620

[3]

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

[4] TRANSCRIPTIONAL ORGANIZATION OF A 450-KB REGION OF THE HUMAN X-CHROMOSOME IN XQ28 [J].

BIONE, S ;

TAMANINI, F ;

MAESTRINI, E ;

TRIBIOLI, C ;

POUSTKA, A ;

TORRI, G ;

RIVELLA, S ;

TONIOLO, D .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1993, 90 (23) :10977-10981

[5] ABNORMAL-BEHAVIOR ASSOCIATED WITH A POINT MUTATION IN THE STRUCTURAL GENE FOR MONOAMINE OXIDASE-A [J].

BRUNNER, HG ;

NELEN, M ;

BREAKEFIELD, XO ;

ROPERS, HH ;

VANOOST, BA .

SCIENCE, 1993, 262 (5133) :578-580

[6]

BRUNNER HG, 1993, AM J HUM GENET, V52, P1032

[7] ILLEGITIMATE TRANSCRIPTION - TRANSCRIPTION OF ANY GENE IN ANY CELL TYPE [J].

CHELLY, J ;

CONCORDET, JP ;

KAPLAN, JC ;

KAHN, A .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1989, 86 (08) :2617-2621

[8] X-LINKED MENTAL-RETARDATION [J].

GLASS, IA .

JOURNAL OF MEDICAL GENETICS, 1991, 28 (06) :361-371

[9] THE RAPID DETECTION OF UNKNOWN MUTATIONS IN NUCLEIC-ACIDS [J].

GROMPE, M .

NATURE GENETICS, 1993, 5 (02) :111-117

[10] NONSPECIFIC X-LINKED MENTAL-RETARDATION - LINKAGE ANALYSIS IN MRX2 AND MRX4 FAMILIES REVISITED [J].

HU, LJ ;

BLUMENFELDHEYBERGER, S ;

HANAUER, A ;

WEISSENBACH, J ;

MANDEL, JL .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1994, 51 (04) :569-574

← 1 2 3 →