1995 Fiscal Year Final Research Report Summary
Linkage analysis of the X chromosome in Rett syndrome
| Project/Area Number |
06670844
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| Research Category |
Grant-in-Aid for General Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Research Field |
Pediatrics
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| Research Institution | Kurume University |
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Principal Investigator |
MATSUISHI Toyojiro Kurume University School of Medicine, Pediatrics.Associate professer, 医学部, 助教授 (60157237)
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| Co-Investigator(Kenkyū-buntansha) |
NAGAMITSU Shinichiro Kurume University School of Medicine, Pediatrics.Research fellow, 医学部, 助手 (30258454)
ISHIBASHI Shinsaku Kurume University School of Medicine, Pediatrics.Research fellow, 医学部, 助手 (90258393)
KOMORI Hironori Kurume University School of Medicine, Pediatrics.Research fellow, 医学部, 助手 (50225588)
YAMAHSITA Yushiro Kurume University School of Medicine, Pediatrics.Research fellow, 医学部, 助手 (90211630)
KOGA Yasutoshi Kurume University School of Medicine, Pediatrics.Assistant Professor, 医学部, 講師 (00225400)
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| Project Period (FY) |
1994 – 1995
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| Keywords | Rett Syndrome / linkage analysis / X chromosome / mitochondria / neuropeptide / 常染色体 |
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| Research Abstract |
Although most cases are sporadic, Rett syndrome (RS) is considered a genetic disorder, because there have been few familial cases and there is striking concordance in MZ twins. The concept of X linkage initially based on a presumed exclusive incidence in females has been supported by maternal lineage transmission in rare familial cases. To determine any gene loci on the X chyomosome in RS,thirteen of the X chromosome micro satellite markers were chosen for multipoint linkage analysis. We found no significant high Lod score. Maternal inheritance discoverd in familial cases has fueled the hypothesis that a genetic basis for RS may involve mitochondrial DNA (mtDNA). We have undertaken a detailed mutation analysis of the gene coding. We found no evidence for large delections, and no evidence of point mutations in mtDNA.
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