Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%.

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

Guidelines for Diagnosis of Cystic Fibrosis in Newborns through Older Adults: Cystic Fibrosis Foundation Consensus Report

Newborn screening (NBS) for cystic fibrosis (CF) is increasingly being implemented and is soon likely to be in use throughout the United States, because early detection permits access to specialized medical care and improves outcomes. The diagnosis of CF is not always straightforward, however. The sweat chloride test remains the gold standard for CF diagnosis but does not always give a clear answer. Genotype analysis also does not always provide clarity; more than 1500 mutations have been identified in the CF transmembrane conductance regulator (CFTR) gene, not all of which result in CF. Harmful mutations in the gene can present as a spectrum of pathology ranging from sinusitis in adulthood to severe lung, pancreatic, or liver disease in infancy. Thus, CF identified postnatally must remain a clinical diagnosis. To provide guidance for the diagnosis of both infants with positive NBS results and older patients presenting with an indistinct clinical picture, the Cystic Fibrosis Foundation convened a meeting of experts in the field of CF diagnosis. Their recommendations, presented herein, involve a combination of clinical presentation, laboratory testing, and genetics to confirm a diagnosis of CF

Intisari pediatri : panduan praktis pediatri klinik, Ed. 2/ Rosenstein

xviii, 509 hal.; 18 cm

Intisari pediatri : panduan praktis pediatri klinik, Ed. 2/ Rosenstein

xviii, 509 hal.; 18 cm

Intisari pediatri : panduan praktis pediatri klinik, Ed. 2/ Rosenstein

xviii, 509 hal.; 18 cm

Intisari pediatri : panduan praktis pediatri klinik, Ed. 2/ Rosenstein

xviii, 509 hal.; 18 cm

Intisari pediatri : panduan praktis pediatri klinik, Ed. 2/ Rosenstein

xviii, 509 hal.; 18 cm

Intisari pediatri : panduan praktis pediatri klinik, Ed. 2/ Rosenstein

xviii, 509 hal.; 18 cm

Intisari pediatri : panduan praktis pediatri klinik, Ed. 2/ Rosenstein

xviii, 509 hal.; 18 cm

Intisari pediatri : panduan praktis pediatri klinik, Ed. 2/ Rosenstein

xviii, 509 hal.; 18 cm