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Prenatal diagnosis of alpha‐1‐antitrypsin deficiency by PCR of linked polymorphisms: A study of 17 cases
Author(s) -
Abbott C. M.,
Lovegrove J. U.,
Whitehouse D. B.,
Hopkinson D. A.,
Povey S.
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.1970120402
Subject(s) - prenatal diagnosis , polymerase chain reaction , alpha (finance) , medicine , alpha 1 antitrypsin deficiency , blot , southern blot , pregnancy , genetics , fetus , biology , obstetrics , microbiology and biotechnology , gene , surgery , construct validity , patient satisfaction
We describe our experiences of prenatal diagnosis of alpha‐1‐antitrypsin deficiency using closely linked polymorphisms detected by Southern blotting and the polymerase chain reaction. Prenatal diagnosis was carried out for 17 pregnancies from 15 couples.