title: Estimation of carrier frequencies of six autosomal-recessive Mendelian disorders in the Korean population.
abstract: Although many studies have been performed to identify mutations in Korean patients with various autosomal-recessive Mendelian disorders (AR-MDs), little is known about the carrier frequencies of AR-MDs in the Korean population. Twenty common mutations from six AR-MDs, including Wilson disease (WD), non-syndromic hearing loss (NSHL), glycogen storage disease type Ia (GSD Ia), phenylketonuria (PKU), congenital hypothyroidism (CH), and congenital lipoid adrenal hyperplasia (CLAH) were selected to screen for based on previous studies. A total of 3057 Koreans were genotyped by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry followed by confirmation using the Sanger sequencing. We found 201 and 8 carriers with either one or two mutations in different genes, respectively, yielding a total carrier frequency of 1 in 15 (6.7%). Of the six AR-MDs, NSHL has the highest carrier frequency followed by WD, CH, CLAH, GSD Ia, and PKU. As carrier screening tests are becoming prevalent and the number of mutations known and tested is rising, a priori data on the carrier frequencies in different ethnic groups is mandatory to plan a population screening program and to estimate its efficiency. In light of this, the present results can be used as a basis to establish a screening policy for common AR-MRs in the Korean population.
authors.affiliation: Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Min-Jung
authors.initials: MJ
authors.lastname: Song
authors.forename: Seung-Tae
authors.initials: ST
authors.lastname: Lee
authors.forename: Mi-Kyung
authors.initials: MK
authors.lastname: Lee
authors.forename: Yongick
authors.initials: Y
authors.lastname: Ji
authors.forename: Jong-Won
authors.initials: JW
authors.lastname: Kim
authors.forename: Chang-Seok
authors.initials: CS
authors.lastname: Ki
mesh_terms: D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000453:epidemiology / Q000235:genetics; D000328:Adult; D000368:Aged; D000483:Alleles; D003409:Congenital Hypothyroidism / Q000453:epidemiology / Q000235:genetics; D004252:DNA Mutational Analysis; D058490:Disorder of Sex Development, 46,XY / Q000453:epidemiology / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D005808:Genes, Recessive; D005820:Genetic Testing; D005953:Glycogen Storage Disease Type I / Q000453:epidemiology / Q000235:genetics; D034381:Hearing Loss / Q000453:epidemiology / Q000235:genetics; D006527:Hepatolenticular Degeneration / Q000453:epidemiology / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D015994:Incidence; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010661:Phenylketonurias / Q000453:epidemiology / Q000235:genetics; D056910:Republic of Korea / Q000453:epidemiology; D055815:Young Adult