Use of the chemical cleavage of mismatch method for prenatal diagnosis of alpha-1-antitrypsin deficiency.
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.
Forrest
S M
SM
Murdoch Institute, Royal Children's Hospital, Parkville, Victoria, Australia.
Dry
P J
PJ
Cotton
R G
RG
D001345:Autoradiography; D001483:Base Sequence; D015193:Chorionic Villi Sampling; D005260:Female; D006801:Humans; D019811:Hydroxylamine; D006898:Hydroxylamines; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D000515:alpha 1-Antitrypsin / Q000235:genetics; D019896:alpha 1-Antitrypsin Deficiency
D006898:Hydroxylamines; D000515:alpha 1-Antitrypsin; D019811:Hydroxylamine