Linkage Analysis of Moyamoya Disease on Chromosome 6

Genetic factors have been suggested to contribute to the etiology of moyamoya disease. The authors have previously reported an association between moyamoya disease and several alleles for human leukocyte antigens (HLA). To further specify the genetic component of moyamoya disease, a linkage study of...

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Veröffentlicht in:Journal of child neurology 2000-03, Vol.15 (3), p.179-182
Hauptverfasser: Inoue, Takuya K., Ikezaki, Kiyonobu, Sasazuki, Takehiko, Matsushima, Toshio, Fukui, Masashi
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container_end_page 182
container_issue 3
container_start_page 179
container_title Journal of child neurology
container_volume 15
creator Inoue, Takuya K.
Ikezaki, Kiyonobu
Sasazuki, Takehiko
Matsushima, Toshio
Fukui, Masashi
description Genetic factors have been suggested to contribute to the etiology of moyamoya disease. The authors have previously reported an association between moyamoya disease and several alleles for human leukocyte antigens (HLA). To further specify the genetic component of moyamoya disease, a linkage study of moyamoya disease using markers on chromosome 6, where the HLA gene is located, was performed. The 15 microsatellite markers of chromosome 6 were studied in 20 affected sibling pairs. From an identical-by-descent analysis of these markers, an allele with possible linkage to moyamoya disease was identified. Sharing of the allele among affected members in 19 families was investigated, considering the haplotype. The marker, D6S441, might be linked to moyamoya disease. Considering the haplotype, the allele was shared among the affected members in 16 (82%) of the 19 families, but not in two others. In one family, sharing of the allele could not be determined because of low heterozygosity. Further studies are necessary to clarify multiple genetic factors that are definitely linked with moyamoya disease. (J Child Neurol 2000;15:179-182).
doi_str_mv 10.1177/088307380001500307
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The authors have previously reported an association between moyamoya disease and several alleles for human leukocyte antigens (HLA). To further specify the genetic component of moyamoya disease, a linkage study of moyamoya disease using markers on chromosome 6, where the HLA gene is located, was performed. The 15 microsatellite markers of chromosome 6 were studied in 20 affected sibling pairs. From an identical-by-descent analysis of these markers, an allele with possible linkage to moyamoya disease was identified. Sharing of the allele among affected members in 19 families was investigated, considering the haplotype. The marker, D6S441, might be linked to moyamoya disease. Considering the haplotype, the allele was shared among the affected members in 16 (82%) of the 19 families, but not in two others. In one family, sharing of the allele could not be determined because of low heterozygosity. Further studies are necessary to clarify multiple genetic factors that are definitely linked with moyamoya disease. 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Further studies are necessary to clarify multiple genetic factors that are definitely linked with moyamoya disease. 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subjects Alleles
Child
Chromosome Mapping
Chromosomes, Human, Pair 6
Communicable Diseases
Etiology
Family (Sociological Unit)
Female
Genetic Carrier Screening
Genetic Markers - genetics
Genetics
Guidelines
Haplotypes
HLA Antigens - genetics
Humans
Male
Microsatellite Repeats
Moyamoya Disease - diagnosis
Moyamoya Disease - genetics
Parents
Patients
Pedigree
Research Committees
Siblings
Twins
title Linkage Analysis of Moyamoya Disease on Chromosome 6
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