title: Fragile X carrier screening in Korean women of reproductive age.
abstract: OBJECTIVE
  To estimate the distribution of the FMR1 alleles and the prevalence of the premutaion (PM) and full mutation (FM) of the FMR1 gene in Korean women of reproductive age.
  
  
  METHODS
  Using polymerase chain reaction and Southern blot, 5829 women of reproductive age were screened (low-risk group n = 5470 and high-risk group n = 359) and 11 prenatal diagnoses were completed between September 2003 and December 2011.
  
  
  RESULTS
  Of the 5829 women screened, normal FMR1 alleles (11,607) had a bimodal distribution with most alleles having 29 (37.87%) and 30 (31.87%) CGG repeats. Of the 5470 women in the low-risk group, 7 PM were identified, giving a PM carrier frequency of 1:781; none of the women had Fragile X syndrome. We also identified 38 intermediate alleles, with a reported incidence of 1:143. Of the 11 prenatal diagnoses, five were normal, five had a premutation, and one had a full mutation allele.
  
  
  CONCLUSIONS
  The carrier frequency is 1/781 (0.13%) in Korean women of reproductive age. This is lower than among Caucasians, but relatively higher than in other Asian populations. Although there may be a founder effect, these results might be valuable in understanding Fragile X syndrome in Koreans and Asians as a whole.
authors: Laboratory of Medical Genetics, Cheil General Hospital and Women's Healthcare Center, Seoul, Korea.
authors: Mi Jin
authors: MJ
authors: Kim
authors: Do Jin
authors: DJ
authors: Kim
authors: Shin Young
authors: SY
authors: Kim
authors: Jae Hyug
authors: JH
authors: Yang
authors: Min Hyoung
authors: MH
authors: Kim
authors: Si Won
authors: SW
authors: Lee
authors: Sin Ok
authors: SO
authors: Jeong
authors: So Yeon
authors: SY
authors: Park
authors: Hyun Mee
authors: HM
authors: Ryu
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics; D005600:Fragile X Syndrome / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D055815:Young Adult
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human