Primary autosomal recessive microcephaly:: MCPH5 maps to 1q25-q32

被引：61
作者：
Jamieson, CR
Fryns, JP
Jacobs, J
Matthijs, G
Abramowicz, MJ
机构：
[1] Free Univ Brussels, Hop Erasme, Dept Genet, Med Genet Lab, B-1070 Brussels, Belgium
[2] Free Univ Brussels, Hop Erasme, MPI Molenstede, B-1070 Brussels, Belgium
[3] Free Univ Brussels, Hop Erasme, Serv Genet Med, B-1070 Brussels, Belgium
[4] Katholieke Univ Leuven, Centrum Menselijke Erfelijkheid, Louvain, Belgium
来源：
AMERICAN JOURNAL OF HUMAN GENETICS | 2000年 / 67卷 / 06期
关键词：
D O I：
10.1086/316909
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Primary microcephaly is thought to result from genetic defects of the developmental program that generates large brain hemispheres in humans. Autosomal recessive inheritance is likely in most familial cases, and four loci were recently mapped by homozygosity. We report homozygosity mapping of a new locus, MCPH5, with a maximum multipoint LOD score of 3.51 at marker D1S1723, in a family of Turkish origin. The minimal critical region spans 11.4 cM between markers D1S384 and D1S2655, at 1q25-q32, and encompasses the cytogenetic breakpoints of chromosomal aberrations previously reported in unrelated patients with microcephaly.
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页码：1575 / 1577
页数：3
相关论文
共 13 条
[1]  
BOURROUILLOU G, 1978, CR SOC BIOL, V172, P359
[2]   A chromosomal deletion map of human malformations [J].
Brewer, C ;
Holloway, S ;
Zawalnyski, P ;
Schinzel, A ;
FitzPatrick, D .
AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 63 (04) :1153-1159
[3]  
COWIE V, 1960, J MENT DEFIC RES, V4, P42
[4]   Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter [J].
Jackson, AP ;
McHale, DP ;
Campbell, DA ;
Jafri, H ;
Rashid, Y ;
Mannan, J ;
Karbani, G ;
Corry, P ;
Levene, MI ;
Mueller, RF ;
Markham, AF ;
Lench, NJ ;
Woods, CG .
AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 63 (02) :541-546
[5]   Primary autosomal recessive microcephaly: Homozygosity mapping of MCPH4 to chromosome 15 [J].
Jamieson, CR ;
Govaerts, C ;
Abramowicz, MJ .
AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (05) :1465-1469
[6]  
KRUGLYAK L, 1995, AM J HUM GENET, V56, P519
[7]   HOMOZYGOSITY MAPPING - A WAY TO MAP HUMAN RECESSIVE TRAITS WITH THE DNA OF INBRED CHILDREN [J].
LANDER, ES ;
BOTSTEIN, D .
SCIENCE, 1987, 236 (4808) :1567-1570
[8]   A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34 [J].
Moynihan, L ;
Jackson, AP ;
Roberts, E ;
Karbani, G ;
Lewis, I ;
Corry, P ;
Turner, G ;
Mueller, RF ;
Lench, NJ ;
Woods, CG .
AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 66 (02) :724-727
[9]   IS A GENE FOR MICROCEPHALY LOCATED ON CHROMOSOME-1 [J].
PEREZCASTILLO, A ;
MARTINLUCAS, MA ;
ABRISQUETA, JA .
HUMAN GENETICS, 1984, 67 (02) :230-232
[10]   The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2 [J].
Roberts, E ;
Jackson, AP ;
Carradice, AC ;
Deeble, VJ ;
Mannan, J ;
Rashid, Y ;
Jafri, H ;
McHale, DP ;
Markham, AF ;
Lench, NJ ;
Woods, CG .
EUROPEAN JOURNAL OF HUMAN GENETICS, 1999, 7 (07) :815-820
12