Relatively common mutations of the Bloom syndrome gene in the Japanese population.
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.
Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu 501-1193, Japan. hideo@cc.gifu-u.ac.jp
Hideo
H
Kaneko
Kouji
K
Isogai
Toshiyuki
T
Fukao
Eiko
E
Matsui
Kimiko
K
Kasahara
Akihiro
A
Yachie
Hidetoshi
H
Seki
Shoichi
S
Koizumi
Masami
M
Arai
Joji
J
Utunomiya
Yoshio
Y
Miki
Naomi
N
Kondo
D000251:Adenosine Triphosphatases / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D001816:Bloom Syndrome / Q000175:diagnosis / Q000235:genetics*; D002460:Cell Line; D002461:Cell Line, Transformed; D002472:Cell Transformation, Viral; D004265:DNA Helicases / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D017353:Gene Deletion; D020868:Gene Silencing; D005808:Genes, Recessive; D005828:Genetics, Population; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007564:Japan; D008297:Male; D009154:Mutation; D010375:Pedigree; D053484:RecQ Helicases
D000251:Adenosine Triphosphatases; C097151:Bloom syndrome protein; D004265:DNA Helicases; D053484:RecQ Helicases