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Relatively common mutations of the Bloom syndrome gene in the Japanese population.
- Source :
-
International journal of molecular medicine [Int J Mol Med] 2004 Sep; Vol. 14 (3), pp. 439-42. - Publication Year :
- 2004
-
Abstract
- Bloom syndrome (BS) is a rare autosomal recessive genetic disorder characterized by lupus-like erythematous facial telangiectasia, sun sensitivity, infertility, stunted growth and a high predisposition to various types of cancer. Chromosomal abnormalities are hallmarks of this disorder, and high frequencies of sister chromatid exchanges and quadriradial configurations in lymphocytes and fibroblasts are diagnostic features. BLM is the causative gene for BS. We investigated the mutation in the BLM gene in 4 Japanese BS kindreds. Taken together with previously documented mutations, 2 kindreds were homozygous for 631delCAA and 2 were compound heterozygous for 631delCAA. The silent mutation of A1055C (Thr to Thr) was detected in control Japanese individuals. The 6-bp deletion/7-bp insertion at position 2,281, which most Askenazi Jewish BS patients carry, was not detected in 200 Japanese alleles. These results suggest that 631delCAA is a relatively common mutation among the Japanese BS patients.
- Subjects :
- Adolescent
Adult
Bloom Syndrome diagnosis
Cell Line
Cell Line, Transformed
Cell Transformation, Viral
DNA Mutational Analysis
Female
Gene Deletion
Gene Silencing
Heterozygote
Homozygote
Humans
Japan
Male
Pedigree
RecQ Helicases
Adenosine Triphosphatases genetics
Bloom Syndrome genetics
DNA Helicases genetics
Genes, Recessive
Genetics, Population
Mutation
Subjects
Details
- Language :
- English
- ISSN :
- 1107-3756
- Volume :
- 14
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- International journal of molecular medicine
- Publication Type :
- Academic Journal
- Accession number :
- 15289897