REFINED ASSIGNMENT OF THE INFANTILE NEURONAL CEROID-LIPOFUSCINOSIS (INCL, CLN1) LOCUS AT 1P32 - INCORPORATION OF LINKAGE DISEQUILIBRIUM IN MULTIPOINT ANALYSIS

被引：69

作者：

HELLSTEN, E

VESA, J

SPEER, MC

MAKELA, TP

JARVELA, I

ALITALO, K

OTT, J

PELTONEN, L

机构：

[1] NATL PUBL HLTH INST,DEPT HUMAN MOLEC GENET,MANNERHEIMINTIE 166,SF-00300 HELSINKI,FINLAND

[2] COLUMBIA UNIV,DEPT PSYCHIAT & GENET & DEV,NEW YORK,NY 10032

[3] NEW YORK STATE PSYCHIAT INST & HOSP,NEW YORK,NY 10032

[4] UNIV HELSINKI,DEPT VIROL,CANC BIOL LAB,SF-00290 HELSINKI 29,FINLAND

[5] UNIV HELSINKI,DEPT PATHOL,SF-00290 HELSINKI 29,FINLAND

来源：

GENOMICS | 1993年 / 16卷 / 03期

关键词：

D O I：

10.1006/geno.1993.1253

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：

Infantile neuronal ceroid lipofuscinosis, INCL, CLN1, is an autosomally inherited progressive neurogenerative disorder. The disease results in the massive death of cortical neurons, suggesting an essential role for the CLN1 gene product in the normal neuronal maturation during the first years of life. Identification of new multiallelic markers has now made possible the construction of a refined genetic map encompassing the CLN1 locus at 1p32. Strong allelic association was detected with a new, highly polymorphic HY-TM1 marker. We incorporated this observed linkage disequilibrium into multipoint linkage analysis, which significantly increased the informativeness of the limited family material and facilitated refined assignment of the CLN1 locus. © 1993 by Academic Press, Inc.

引用

收藏

页码：720 / 725

页数：6

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