LINKAGE DISEQUILIBRIUM MAPPING IN ISOLATED FOUNDER POPULATIONS - DIASTROPHIC DYSPLASIA IN FINLAND

被引：469

作者：

HASTBACKA, J

DELACHAPELLE, A

KAITILA, I

SISTONEN, P

WEAVER, A

LANDER, E

机构：

[1] UNIV HELSINKI, DEPT MED GENET, SF-00290 HELSINKI 29, FINLAND

[2] FOLKHALSAN INST GENET, SF-00290 HELSINKI, FINLAND

[3] UNIV HELSINKI, CENT HOSP, DEPT MED GENET, SF-00100 HELSINKI 10, FINLAND

[4] FINNISH RED CROSS & BLOOD TRANSFUS SERV, BLOOD TRANSFUS SERV, HELSINKI, FINLAND

[5] WHITEHEAD INST BIOMED RES, CAMBRIDGE, MA 02142 USA

[6] MIT, CTR GENOME RES, CAMBRIDGE, MA 02139 USA

[7] MIT, DEPT BIOL, CAMBRIDGE, MA 02139 USA

来源：

NATURE GENETICS | 1992年 / 2卷 / 03期

关键词：

D O I：

10.1038/ng1192-204

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Linkage disequilibrium mapping in isolated populations provides a powerful tool for fine structure localization of disease genes. Here, Luria and Delbruck's classical methods for analysing bacterial cultures are adapted to the study of human isolated founder populations in order to estimate (i) the recombination fraction between a disease locus and a marker; (ii) the expected degree of allelic homogeneity in a population; and (iii) the mutation rate of marker loci. Using these methods, we report striking linkage disequilibrium for diastrophic dysplasia (DTD) in Finland indicating that the DTD gene should lie within 0.06 centimorgans (or about 60 kilobases) of the CSF1R gene. Predictions about allelic homogeneity in Finland and mutation rates in simple sequence repeats are confirmed by independent observations.

引用

页码：204 / 211

页数：8

共 35 条

[1]

BRODY LC, 1992, J BIOL CHEM, V267, P3302

[2]

CAVALLISFORZA LL, 1971, GNETICS HUMAN POPULA, P71

[3] POSITIONAL CLONING - LETS NOT CALL IT REVERSE ANYMORE [J].