|
|||||
|
|
Restriction fragment length polymorphisms of the CYP11B1 gene in the Japanese population |
|
| Authors: | Yuichi Nakagawa Hiromi Takeuchi Akira Kubota Yutaka Nakahori Yasuo Nakagome Yoshio Igarashi Masao Yamada |
| Institution: | (1) Department of Pediatrics, Hamamatsu University School of Medicine, Handa-cho, 431-31 Hamamatsu, Japan;(2) Department of Human Genetics, School of International Health, University of Tokyo, Bunkyo-ku, 154 Tokyo, Japan;(3) Department of Congenital Abnormalities Research, National Children's Medical Research Center, Taishido, Setagaya-ku, 154 Tokyo, Japan |
| Abstract: | Summary Restriction fragment length polymorphisms (RFLPs) of the CYP11B1 gene were studied in Japanese using cDNA clone P450c11 as a probe. Genomic DNAs from 60 unrelated Japanese individuals were digested with 8 different restriction enzymes and analyzed by Southern blot hybridization. Two RFLPs were detected inMspI digests of the DNA. One(A) was characterized by polymorphic bands at 3.4 and 2.5 kilobasepairs (kb) and the other (B) by polymorphic bands at 1.7 and 1.2 kb. The third RFLP was observed inPvuII-digested samples and was polymorphic at 5.8 and 4.0 kb bands. Two of the three RFLPs found, RFLP (A) and (C), have not been described in the only previous report which was based on Caucasian samples. We also examined the RFLPs of a 3 generation family of 11 -hydroxylase deficiency caused by an abnormality of the CYP11B1 gene. All the family members were homozygous in all three RFLPs and was thus not informative. |
| Keywords: | CYP11B1 RFLP congenital adrenal hyperplasia ethnic group |
| 本文献已被 SpringerLink 等数据库收录！ | |