Premium
A simplified method for detection of the mutations predominantly causing cystic fibrosis and phenylketonuria in Polish families
Author(s) -
Witt Michal,
Jaruzelska Jadwiga,
Kuczora Izabela,
Matuszak Renata,
Cichy Wojciech,
Borski Krzysztof
Publication year - 1993
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1993.tb03840.x
Subject(s) - cystic fibrosis , genetics , mutation , medicine , biology , gene
Witt M, Jaruzelska J, Kuczora I, Matuszak R, Cichy W, Borski K. A simplified method for detection of the mutations predominantly causing cystic fibrosis and phenylketonuria in Polish families. Clin Genet 1993: 44: 44–45. © Munksgaard, 1993 Genomic DNA was isolated from dried blood specimens and subsequently used as a template in simplified PCR‐based detection assays of delta F508 mutation of CFTR gene and of R408W mutation of PAH gene in families with cystic fibrosis and phenylketonuria, respectively. Products of amplification of CFTR gene were analyzed in NuSieve agarose gel. The amplification‐created restriction site with Taql digestion was used for detection of the PAH gene mutation.