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


METHODS
Between December 2001 and September 2003, we performed carrier screening for 2189 African Americans, testing for at least the 25 recommended mutations.


RESULTS
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).


CONCLUSIONS
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 of 3120 + 1G --> A carriers. Further studies on African American patients with classic CF are needed to examine the incidence of CF mutations that are not part of the current panel, such as G622D.
Monaghan
Kristin G
KG
Department of Medical Genetics, Henry Ford Hospital, 2799 West Grand Boulevard, CFP 466, Detroit, MI 48202, USA.
Bluhm
Denise
D
Phillips
Michelle
M
Feldman
Gerald L
GL
D001741:Black or African American; D000483:Alleles; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics*; D006580:Genetic Carrier Screening; D005820:Genetic Testing; D005828:Genetics, Population; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D015997:Neonatal Screening; D011110:Polymorphism, Genetic; D011237:Predictive Value of Tests; D011247:Pregnancy; D011296:Prenatal Diagnosis
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator