Fragile X carrier screening in Korean women of reproductive age.

Kim, Mi Jin; Kim, Do Jin; Kim, Shin Young; Yang, Jae Hyug; Kim, Min Hyoung; Lee, Si Won; Jeong, Sin Ok; Park, So Yeon; Ryu, Hyun Mee

The article presents a study that determines the distribution of fragile X mental retardation 1 (FMR1) alleles and the prevalence of permutation (PM) and full mutation (FM) of the gene in Korean women. It describes the method of the study that uses polymerase chain reaction and Southern blot on 5829 of reproductive age. It notes the result of the study which indicates the carrier frequency in Korean women of reproductive age, which is lower than the Caucasians.

KOREA; DIAGNOSIS of fragile X syndrome; ACADEMIC medical centers; CARRIER state (Communicable diseases); FISHER exact test; FRAGILE X syndrome; IMMUNOBLOTTING; MEDICAL screening; GENETIC mutation; NUCLEOTIDE separation; POLYMERASE chain reaction; QUESTIONNAIRES; DISEASE incidence; DISEASE prevalence; SEVERITY of illness index; DATA analysis software; ADULTS

Journal of Medical Screening, 2013, Vol 20, Issue 1, p15

0969-1413

Academic Journal

10.1177/0969141313488364