REFINED GENETIC-MAPPING OF JUVENILE-ONSET NEURONAL CEROID-LIPOFUSCINOSIS ON CHROMOSOME-16

被引：10

作者：

MITCHISON, HM

WILLIAMS, RE

MCKAY, TR

CALLEN, DF

THOMPSON, AD

MULLEY, JC

STALLINGS, RL

HILDEBRAND, CE

MOYZIS, RK

JARVELA, I

PELTONEN, L

HAINES, J

SUTHERLAND, GR

GARDINER, RM

机构：

[1] NATL PUBL HLTH INST,MOL GENET LAB,SF-00300 HELSINKI,FINLAND

[2] MASSACHUSETTS GEN HOSP,CTR NEUROSCI,BOSTON,MA 02129

[3] ADELAIDE CHILDRENS HOSP INC,DEPT CYTOGENET & MOLEC GENET,ADELAIDE,SA 5006,AUSTRALIA

[4] LOS ALAMOS NATL LAB,CTR HUMAN GENOME STUDIES,LOS ALAMOS,NM 87545

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1993年 / 16卷 / 02期

关键词：

D O I：

10.1007/BF00710278

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

We propose that the most likely location for CLN3 is within the interval between loci D16S297 and D16S57 on the proximal portion of the short arm of chromosome 16. The position of the CLN3 gene could be further refined by the use of new polymorphic markers isolated within this interval. We have preliminary data indicating strong linkage disequilibrium with the disease for two markers, D16S298 and D16S299, and we find no recombination between these loci in the CEPH pedigrees (Thompson, Callen, Mitchison and Gardiner, unpublished). We therefore have a good indication that within our expected interval CLN3 is within close proximity of the locus D16S298/299. © 1993 Society for the Study of Inborn Errors of Metabolism and Kluwer Academic Publishers.

引用

页码：339 / 341

页数：3

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