title: A 15-year-long Southern blotting analysis of FMR1 to detect female carriers and for prenatal diagnosis of fragile X syndrome in Taiwan.
abstract: Here, we review the results of Southern blotting analyses of the FMR1 gene performed in our reference laboratory in Taiwan over a 15-year period. In total, 725 high-risk women with a family history of fragile X syndrome (FXS) or idiopathic intellectual disability, 3911 low-risk pregnant women without such family history, and prenatal diagnosis data for 32 foetuses from 24 carrier mothers were included. Only 2 carriers were in the low-risk group, which indicated a prevalence of 1 of 1955 women (95% confidence interval: 1/7156-1/539). A total of 100 carriers were found to be in the high-risk group, thus revealing a significantly higher frequency than the low-risk group (100/725 vs 2/3911, P<0.0001). Eight of the 14 foetuses that inherited the maternal mutant allele were verified to have a full mutation, with the smallest maternal pre-mutation allele carrying 56 CGG repeats. The overall findings confirmed that the carrier prevalence among low-risk women in Taiwan is significantly lower than that reported in western countries. Therefore, the most important step for preventing FXS in Taiwan would be to focus on high-risk women by promoting general awareness of this disease and spreading knowledge regarding the benefits of carrier screening and prenatal testing.
authors.affiliation: Department of Pathology, Chi Mei Medical Center, Tainan, Taiwan.
authors.forename: C-C
authors.identifier: http://orcid.org/0000-0003-0773-3445
authors.initials: CC
authors.lastname: Tzeng
authors.affiliation: Department of Pediatrics, Taipei Tzu Chi General Hospital, New Taipei City, Taiwan.|School of Medicine, Tzu Chi University, Hualien, Taiwan.
authors.forename: L-P
authors.initials: LP
authors.lastname: Tsai
authors.affiliation: School of Medicine, Tzu Chi University, Hualien, Taiwan.|Department of Pediatrics, Taipei Tzu Chi General Hospital, New Taipei City, Taiwan.
authors.forename: Y-K
authors.initials: YK
authors.lastname: Chang
authors.affiliation: Genetics Generation Advancement, Taipei, Taiwan.
authors.forename: Y-J
authors.initials: YJ
authors.lastname: Hung
authors.affiliation: GenePhile Bioscience Laboratory, Taipei, Taiwan.
authors.forename: Y-Y
authors.initials: YY
authors.lastname: Chang
authors.affiliation: Taiwan Medical Laboratory, Taipei, Taiwan.
authors.forename: Y-P
authors.initials: YP
authors.lastname: Su
authors.affiliation: Jiang's Obstetrics and Gynecology Clinic, Hsinchu, Taiwan.
authors.forename: J-J
authors.initials: JJ
authors.lastname: Jiang
authors.affiliation: Chien-Shin Hospital, Kaohsiung, Taiwan.
authors.forename: H-M
authors.initials: HM
authors.lastname: Liang
mesh_terms: D000328:Adult; D000483:Alleles; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D005600:Fragile X Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D006580:Genetic Carrier Screening / Q000379:methods; D005820:Genetic Testing; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human
keywords: 
  FMR1
  ; Southern blotting; carrier screening; fragile X syndrome; idiopathic intellectual disability; prenatal testing