GENETIC-HETEROGENEITY OF DOMINANTLY INHERITED OLIVOPONTOCEREBELLAR ATROPHY (OPCA) IN THE JAPANESE - LINKAGE STUDY OF 2 PEDIGREES AND EVIDENCE FOR THE DISEASE LOCUS ON CHROMOSOME-12Q (SCA2)

被引：17

作者：

IHARA, T

SASAKI, H

WAKISAKA, A

TAKADA, A

YOSHIKI, T

MATSUURA, T

HAMADA, T

SUZUKI, Y

TASHIRO, K

机构：

[1] HOKKAIDO UNIV,SCH MED,DEPT NEUROL,KITA KU,SAPPORO,HOKKAIDO 060,JAPAN

[2] HOKKAIDO UNIV,SCH MED,DEPT PATHOL 1,KITA KU,SAPPORO,HOKKAIDO 060,JAPAN

[3] HOKUYUKAI NEUROL HOSP,SAPPORO,HOKKAIDO 060,JAPAN

[4] YAMAGATA UNIV,SCH MED,DEPT INTERNAL MED 3,YAMAGATA 99023,JAPAN

来源：

JAPANESE JOURNAL OF HUMAN GENETICS | 1994年 / 39卷 / 03期

关键词：

SPINOCEREBELLAR ATAXIA; HEREDITARY OLIVOPONTOCEREBELLAR ATROPHY; GENETIC HETEROGENEITY; SCA2; LINKAGE ANALYSIS;

D O I：

10.1007/BF01874049

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We did a linkage study of 2 multigenerational pedigrees with dominant olivopontocerebellar atrophy (OPCA) other than SCA1, with chromosome 12q microsatellites. Multipoint linkage analysis led to the conclusion that the disease locus locates within the 6.2 cM interval between IGF1 and D12S84/D12S105. This result coincides with that of Cuban ataxia pedigrees designated as SCA2. Our study provides genetic evidence that dominant OPCA in the Japanese consists of at least two genetically different disorders; SCA1 and SCA2.

引用

页码：305 / 313

页数：9

共 3 条

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HERNANDEZ, A
MAGARINO, C
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[2] BENIGN FAMILIAL NEONATAL CONVULSIONS - CONFIRMATION OF GENETIC-HETEROGENEITY AND FURTHER EVIDENCE FOR A 2ND LOCUS ON CHROMOSOME-8Q
STEINLEIN, O
SCHUSTER, V
FISCHER, C
HAUSSLER, M
HUMAN GENETICS, 1995, 95 (04) : 411 - 415
[3] A molecular genetic study on autosomal-dominant ataxias in Japanese. Comparison of the prevalences and CAG repeat expansions among spinocerebellar ataxia (SCA1), spinocerebellar ataxia type 2 (SCA2), Machado-Joseph disease (MJD) and dentatorubral-pallidoluysian atrophy (DRPLA)
Takano, H
Ikeuchi, T
Igarashi, S
Oyake, M
Koide, R
Sasaki, R
Sanpei, K
Sasaki, H
Wakisaka, A
Tashiro, K
Iwabuchi, K
Takiyama, Y
Nishizawa, M
Tanaka, H
NEUROLOGY, 1997, 48 (03) : 26002 - 26002

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