Avtor/Urednik		Ravnik-Glavač, Metka; Glavač, Damjan; Chernick, Mila; di Sant'Agnese, Paul; Dean, Michael
Naslov		Screening for CF mutations in adult cystic fibrosis patients with a directed and optimized SSCP strategy
Tip		članek
Vir		Hum Mutat
Vol. in št.		Letnik 3, št. 3
Leto izdaje		1994
Obseg		str. 231-8
Jezik		eng
Abstrakt		Twenty adolescent and adult cystic fibrosis (CF) patients have been studied for the presence of mutations in the CFTR gene. Mutations other than deltaF508 have been detected by comparison to the single-stranded conformation polymorphism (SSCP) pattern of known mutations in eight exons, in which 80 percent of the more common mutations are present. Each mutation was confirmed by direct sequencing. For each of the analyzed exons, optimal SSCP conditions have been determined that allow all available known mutations in that exon to be distinguished from each other. This approach allowed mutations to be defined in 75 percent of the non deltaF508 alleles and 92 percent of all CF alleles in this cohort.
Deskriptorji		CYSTIC FIBROSIS MEMBRANE PROTEINS MUTATION POINT MUTATION POLYMORPHISM (GENETICS) ADOLESCENCE ADULT BASE SEQUENCE CHLORIDES DNA PRIMERS EXONS MOLECULAR SEQUENCE DATA POLYMERASE CHAIN REACTION SWEAT