NDLI: Analysis of the Alpha-1-Antitrypsin Deficient Alleles M3S, MZ, and ZZ by Biochemical and Molecular Methods: A Family Study

Content Provider	Springer Nature Link
Author	Calapoğlu, Mustafa Değer, Orhan Balaban, Fulya Şahin Calapoğlu, Nilufer Bülbül, Yılmaz Burling, Keith
Copyright Year	2008
Abstract	Deficiency of alpha-1-antitrypsin (α1-AT, a major protease inhibitor controlling tissue degradation) is a genetic disorder transmitted in a codominant autosomal form. It has more than 100 genetically determined variants. This study attempted to determine the degree of association between serum α1-AT levels and phenotypes and to provide a strategy for reliable laboratory evaluation of deficiencies. The study group consisted of a 38-year-old male proband with clinical features of emphysema, his first-degree relatives, and healthy controls. Family history revealed a four-generation pedigree. Genomic DNA was isolated from peripheral blood leukocytes. Alpha-1-AT levels were determined from human serum by immunonephelometry. Phenotypes were determined by isoelectric focusing of blood samples. DNA sequences of coding exons were analyzed by the amplification DNA technique and direct sequencing. Inheritance and plasma levels of the ZZ, MM, M3S, and MZ phenotypes were confirmed by the family study. In the family members with deficiencies, plasma concentrations were 22.55% ± 5.15 (ZZ), 84.18% ± 5.18 (M3S), and 61.06% ± 7.15 (MZ) of the normal MM level. We found a close association between α1-AT level and genotype. A combination of genotyping, quantification, and phenotyping is the optimal strategy for the laboratory evaluation of α1-AT deficiency.
Starting Page	33
Ending Page	41
Page Count	9
File Format	PDF
ISSN	00062928
Journal	Biochemical Genetics
Volume Number	47
Issue Number	1-2
e-ISSN	15734927
Language	English
Publisher	Springer US
Publisher Date	2008-12-13
Publisher Place	Boston
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Alpha-1-antitrypsin deficiency Genetic screening Phenotype PI*M3 allele Confidence intervals Medical Microbiology Zoology Biochemistry Human Genetics
Content Type	Text
Resource Type	Article
Subject	Genetics Medicine Biochemistry Molecular Biology Ecology, Evolution, Behavior and Systematics

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