Preconception and prenatal cystic fibrosis carrier screening of African Americans reveals unanticipated frequencies for specific mutations

Genetics in Medicine : Official Journal of the American College of Medical Genetics
Kristin G MonaghanGerald L Feldman

Abstract

It is recommended that cystic fibrosis (CF) carrier screening be made available to African Americans who are either pregnant or planning a pregnancy. We analyzed the carrier and mutant allele frequencies for African Americans undergoing CF carrier screening in our laboratories. Between December 2001 and September 2003, we performed carrier screening for 2189 African Americans, testing for at least the 25 recommended mutations. A total of 33 CF carriers were identified. The most common mutations detected were deltaF508, G622D, R117H/7T, and G551D. The G622D allele frequency among African Americans was 0.18%. We did not detect any 3120 + 1G --> A carriers, although 4 were expected (P < 0.05). When considering only the 25 recommended CF mutations, 1 in 75 African Americans screened in our laboratories were carriers (within the expected range, given a 69% mutation detection rate). The addition of 2 mutations, G622D and Q98R (incidentally identified while screening for ACOG/ACMG mutations), increased the observed carrier frequency to 1 in 66, which is not significantly different from the known African American carrier frequency of 1 in 65. The frequencies of several specific mutations detected were unanticipated, as was the absence ...Continue Reading

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Citations

Sep 7, 2002·Fertility and Sterility·Ulrike Zenke, Ryszard J Chetkowski
Jul 25, 2009·Journal of Tropical Pediatrics·Léon Mutesa, Vincent Bours
Sep 17, 2004·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Elaine A SugarmanBernice A Allitto
Apr 18, 2006·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Sainan WeiKristin G Monaghan
Aug 22, 2006·Pediatric Dermatology·Kara A Mensink, Jennifer L Hand
Dec 18, 2013·Paediatric Respiratory Reviews·Bruce K Rubin
Jul 20, 2010·Clinics in Laboratory Medicine·Katherine R Goetzinger, Alison G Cahill
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Apr 9, 2020·The European Respiratory Journal·Matthew S McCravyMartina Gentzsch

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