Linkage mapping of a new syndromic form of X-linked mental retardation, MRXS7, associated with obesity

被引：13

作者：

Ahmad, W

De Fusco, M

ul Haque, MF

Aridon, P

Sarno, T

Sohail, M

ul Haque, S

Ahmad, M

Ballabio, A

Franco, B

Casari, G

机构：

[1] Telethon Inst Genet & Med, I-20132 Milan, Italy

[2] Northwestern Univ, Sch Med, Dept Neurol Cell & Mol Biol, Chicago, IL USA

[3] Univ Oxford, Dept Biochem, Oxford OX1 2JD, England

[4] Quaid I Azam Univ, Dept Biol Sci, Islamabad, Pakistan

[5] Univ Vita Salute, Milan, Italy

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 1999年 / 7卷 / 07期

关键词：

X-linked mental retardation; obesity; linkage mapping;

D O I：

10.1038/sj.ejhg.5200376

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

A new syndromic form of X-linked mental retardation associated to obesity, MRXS7, has been localised to Xp11.3-Xq23 in a large Pakistani family. The ten affected males show clinical manifestations of mental retardation, obesity and hypogonadism. The family was genotyped by a set of microsatellite markers spaced at approximately 10 cM intervals on the X chromosome. Linkage to five adjacent microsatellite markers, mapping in the pericentromeric area, was established and a maximum two-point lod score of 3.86 was reached at zero recombination with marker DXS1106. Reduced recombination events around the centromere prevented precise mapping of the gene.

引用

页码：828 / 832

页数：5

共 29 条

[1]

ALITALO T, 1991, AM J HUM GENET, V48, P31

[2] PAK3 mutation in nonsyndromic X-linked mental retardation [J].

Allen, KM ;

Gleeson, JG ;

Bagrodia, S ;

Partington, MW ;

MacMillan, JC ;

Cerione, RA ;

Mulley, JC ;

Walsh, CA .

NATURE GENETICS, 1998, 20 (01) :25-30

[3]

BECHHANSEN NT, 1993, AM J HUM GENET, V52, P71

[4] Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation [J].

Billuart, P ;

Bienvenu, T ;

Ronce, N ;

Des Portes, V ;

Vinet, MC ;

Zemni, R ;

Roest Crollius, H ;

Carrié, A ;

Fauchereau, F ;

Cherry, M ;

Briault, S ;

Hamel, B ;

Fryns, JP ;

Beldjord, C ;

Kahn, A ;

Moraine, C ;

Chelly, J .

NATURE, 1998, 392 (6679) :923-926

[5] A 1.8-MB YAC CONTIG IN XP11.23 - IDENTIFICATION OF CPG ISLANDS AND PHYSICAL MAPPING OF CA REPEATS IN A REGION OF HIGH GENE DENSITY [J].

COLEMAN, MP ;

NEMETH, AH ;

CAMPBELL, L ;

RAUT, CP ;

WEISSENBACH, J ;

DAVIES, KE .

GENOMICS, 1994, 21 (02) :337-343

[6] Mutations in GDI1 are responsible for X-linked non-specific mental retardation [J].

D'Adamo, P ;

Menegon, A ;

Lo Nigro, C ;

Grasso, M ;

Gulisano, M ;

Tamanini, F ;

Bienvenu, T ;

Gedeon, AK ;

Oostra, B ;

Wu, SK ;

Tandon, A ;

Valtorta, F ;

Balch, WE ;

Chelly, J ;

Toniolo, D .

NATURE GENETICS, 1998, 19 (02) :134-139

[7]

DELEEUW B, 1993, ONCOGENE, V8, P1457

[8] A comprehensive genetic map of the human genome based on 5,264 microsatellites [J].

Dib, C ;

Faure, S ;

Fizames, C ;

Samson, D ;

Drouot, N ;

Vignal, A ;

Millasseau, P ;

Marc, S ;

Hazan, J ;

Seboun, E ;

Lathrop, M ;

Gyapay, G ;

Morissette, J ;

Weissenbach, J .

NATURE, 1996, 380 (6570) :152-154

[9]

Gedeon A, 1996, AM J MED GENET, V64, P80, DOI 10.1002/(SICI)1096-8628(19960712)64:1<80::AID-AJMG13>3.3.CO

[10]

2-I

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