No large-scale studies of the incidence or disease severity of cystic fibrosis (CF) in black patients have been reported to date. In this study, the CF Foundation National Patient Registry was used to establish new incidence figures and to compare the clinical status of U.S. black (n = 601) and white patients (n = 17,755) with CE Results indicate that the incidence of CF is approximately 1 in 3,200 white and 1 in 15,000 black live births in the United States. Black patients with CF are currently, and were at diagnosis, younger and have poorer nutritional status and pulmonary function than white patients with CF. Fewer have meconium ileus, but more have distal intestinal obstruction syndrome. To control for genotype, each black deltaF508 homozygote (n = 47) was compared with four age- and sex-matched white deltaF508 homozygotes. Only the difference in nutritional status remained. The deltaF508 mutation is associated with higher levels of meconium ileus than other genotypes, independent of race. In conclusion, the clinical manifestations of CF are similar in black and white patients except for poorer nutritional status in black patients, which appears to be independent of age and genotype.

• MeSH
• běloši genetika   MeSH
• černoši * genetika   MeSH
• cystická fibróza * etnologie   genetika   patofyziologie   MeSH
• dítě MeSH
• fenotyp MeSH
• genotyp MeSH
• incidence MeSH
• kojenec MeSH
• lidé MeSH
• nutriční stav MeSH
• předškolní dítě MeSH
• průřezové studie MeSH
• respirační funkční testy MeSH
• Check Tag
• dítě MeSH
• kojenec MeSH
• lidé MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• práce podpořená grantem MeSH
• Research Support, U.S. Gov't, P.H.S. MeSH
• srovnávací studie MeSH
• Geografické názvy
• Spojené státy americké MeSH

Cystic fibrosis (CF)--an autosomal recessive disorder caused by mutations in CF transmembrane conductance regulator (CFTR) and characterized by abnormal chloride conduction across epithelial membranes, leading to chronic lung and exocrine pancreatic disease--is less common in African-Americans than in Caucasians. No large-scale studies of mutation identification and screening in African-American CF patients have been reported, to date. In this study, the entire coding and flanking intronic sequence of the CFTR gene was analyzed by denaturing gradient-gel electrophoresis and sequencing in an index group of 82 African-American CF chromosomes to identify mutations. One novel mutation, 3120+1G-->A, occurred with a frequency of 12.3% and was also detected in a native African patient. To establish frequencies, an additional group of 66 African-American CF chromosomes were screened for mutations identified in two or more African-American patients. Screening for 16 "common Caucasian" mutations identified 52% of CF alleles in African-Americans, while screening for 8 "common African" mutations accounted for an additional 23%. The combined detection rate of 75% was comparable to the sensitivity of mutation analysis in Caucasian CF patients. These results indicate that African-Americans have their own set of "common" CF mutations that originate from the native African population. Inclusion of these "common" mutations substantially improves CF mutation detection rates in African-Americans.

• MeSH
• bodová mutace MeSH
• černoši * genetika   MeSH
• cystická fibróza * diagnóza   genetika   MeSH
• dospělí MeSH
• genetické testování MeSH
• lidé MeSH
• mladiství MeSH
• mutace * MeSH
• posunová mutace MeSH
• protein CFTR * genetika   MeSH
• terminační kodon MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• Publikační typ
• práce podpořená grantem MeSH
• Research Support, U.S. Gov't, P.H.S. MeSH
• Geografické názvy
• Afrika MeSH
• Spojené státy americké MeSH