1993 Fiscal Year Final Research Report Summary
DNA analysis in amelogenesis imperfecta
| Project/Area Number |
03454501
|
|---|
| Research Category |
Grant-in-Aid for General Scientific Research (B)
|
| Allocation Type | Single-year Grants |
|---|
| Research Field |
Human genetics
|
|---|
| Research Institution | University of Tokyo (1992-1993)
National Research Institute for Child Health and Development (1991) |
|---|
Principal Investigator |
NAKAGOME Yasuo UNIVERSITY OF TOKYO SCHOOL OF INTERNATIONAL HEALTH, DEPARTMENT OF HUMAN GENETICS, PROFESSOR, 医学部(医), 教授 (30000235)
|
|---|
| Co-Investigator(Kenkyū-buntansha) |
NAKAHORI Yutaka UNIVERSITY OF TOKYO SCHOOL OF INTERNATIONAL HEALTH, DEPARTMENT OF HUMAN GENETICS, 医学部(医), 助教授 (10172389)
|
|---|
| Project Period (FY) |
1991 – 1993
|
| Keywords | amelogenesis imperfecta / amelogenin / tooth / tooth enamel / sex linked trait / XY homologous region / PCR / DNA diagnosis |
|---|
| Research Abstract |
A gene was cloned form the proximal short arm of the human Y chromosome. Later, a homologous gene was cloned from the distal short arm of the X chromosome. Both genes were sequenced for about 2.8kb and 3 exons were identified in both of them. The exones of both genes showed about 93% sequence homology. It was later identified that they were amelogenin gene on X and amelogenin-like gene on Y.
Studies of families with amelogenesis imperfecta revealed that in a large family with sex-linked amelogenesis imperfecta, all the affected members showed a 5kb deletion of the amelogenin gene involving all the 3 exones. The results definitely showed that sex-linked amelogenesis imperfecta was caused by the abnormality of the amelogenin gene. None of autosomal recessive or autosomal dominant families showed abnormality of the amelogenin gene.
The amelogenin-like gene on Yp had an about 180bp deletion within an intron. A set of primers was designated which enabled a simultaneous detection of both X and Y sequences by PCR.The technique much improved the reliability of the sec determination by PCR.
|
