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Use of the chemical cleavage of mismatch method for prenatal deficiency diagnosis of alpha‐1‐antitrypsin
Author(s) -
Forrest S. M.,
Dry P. J.,
Cotton R. C. H.
Publication year - 1992
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970120209
Subject(s) - chorionic villus sampling , prenatal diagnosis , microbiology and biotechnology , mutation , chorionic villi , cleavage (geology) , exon , polymerase chain reaction , hydroxylamine , fetus , chemistry , biology , genetics , gene , biochemistry , pregnancy , paleontology , fracture (geology)
The most common mutation in alpha‐1‐antitrypsin deficiency, conversion of a G to an A at base 9989 (PI‐Z), was detected with the chemical cleavage of mismatch method, demonstrating the power of the method for prenatal diagnosis. Exon V of the gene was amplified using the polymerase chain reaction and heteroduplexes were formed to test for the presence of the mutation. The predicted C mismatch was readily detectable with hydroxylamine, and by making the probe from the chorionic villus sample it was possible to determine that the fetus was heterozygous, not homozygous, for the mutation.