Cystic Fibrosis testing among Arab-Americans.
OBJECTIVE
Limited data regarding the cystic fibrosis carrier frequency and mutation detection rate is available for Arab-Americans. We retrospectively determined the frequency of carriers among Arab-Americans undergoing preconception and prenatal carrier screening in our laboratories.


METHODS
Between October, 2001 and June, 2005, we performed carrier screening on 805 Arab-Americans, testing for at least the original 25 mutations recommended by the American College of Medical Genetics. We compared our results to previously published studies among Arabic cystic fibrosis patients. We also performed diagnostic testing on seven individuals.


RESULTS
Seven carriers were identified, with an observed carrier frequency of 1 in 115. The most common mutation we identified was W1282X (57% of the mutations detected), followed by DeltaF508 and R117H. Three of 7 patients with a known or suspected diagnosis had two identifiable mutations, including 1548delG, DeltaF508, W1282X, 2789 + 5G>A and R170H.


CONCLUSIONS
The current recommended carrier screening panel includes only six mutations reported among Arabic cystic fibrosis patients, accounting for 37.1% of the mutations identified among this group. The addition of 1548delG, I1234V, H139L and 4010del4 as part of an extended screening panel would increase the detection rate to 66.3%, similar to the mutation detection rates in other races/ethnic groups.
Wei
Sainan
S
Medical Genetics, Henry Ford Hospital, Detroit, MI 48202, USA.
Feldman
Gerald L
GL
Monaghan
Kristin G
KG
D000328:Adult; D018912:Arabs / Q000235:genetics*; D002648:Child; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D005817:Genetic Counseling; D005820:Genetic Testing; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D009154:Mutation; D012189:Retrospective Studies; D014481:United States