Allele distribution of FMR1 gene in Korean women.

Song, Kyung Chul; Kim, Gwang Jun; Whang, Yu Jin; Choi, Su Ran; Lee, Soon Pyeu; Whang, Byung Chul; Lee, Eyi Don

Original Article

Korean Journal of Obstetrics & Gynecology 2002;45(6):990-993.
Published online June 1, 2002.

Allele distribution of FMR1 gene in Korean women.

Kyung Chul Song, Gwang Jun Kim, Yu Jin Whang, Su Ran Choi, Soon Pyeu Lee, Byung Chul Whang, Eyi Don Lee

¹Department of Obstertics and Gynecology, Gachon Medical School, Incheon.
²Molecular bilology Laboratory of Gachon Medical School, Incheon.

Abstract

OBJECTIVE
Fragile X syndrome is the most common form of familial mental retardation, attributable to (CGG)n expansion in the FMR1 gene. This study was undertaken to ascertain the distribution of FMR1 CGG repeat in the general Korean women and to identify ethnic difference in FMR1 CGG repeat number. Material and METHOD: Between January 1999 and December 1999, we evaluated 1,000 low risk women who visited Gachon Medical School Hospital. DNA samples were extracted from the venous bloods by routine methods, and G-C specific Polymerase Chain Reaction (PCR)s were performed to evaluate FMR1 CGG repeat number. RESULTS: Mean FMR1 CGG repeat number was 26.9 (6-50), single PCR bands were detected in 776 cases (77.7%). There were two more bands in 22.3% of the cases. Most of the cases are located between 21 and 35 repeats, especially 21-25 repeats. The pattern of distribution of CGG repeat is dispersed. In 13 cases, we could not obtain the PCR results. CONCLUSION: Low risk of transmission rate of the FRX in Korea can be expected.

Key Words: FMR1, polymerase chain reaction (PCR), Southern blotting