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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Harrold, T. R. Fraizer, G. C. Hofker, M. H. Cox, D. W. |
| Description | Country affiliation: Canada Author Affiliation: Fraizer GC ( Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada.) |
| Abstract | A deficiency of the plasma protease inhibitor alpha 1-antitrypsin (alpha 1AT) is usually a consequence of the PI*Z allele. Mmalton is another deficiency allele which, like Z alpha 1AT, is associated with hepatocyte inclusions and impaired secretion. We report here the sequence of the PI Mmalton allele, which contains a 3-bp deletion coding for one of two adjacent phenylalanine residues (amino acid 51 or 52 of the mature protein). Using oligonucleotide hybridization of polymerase chain reaction-amplified DNA, we have demonstrated cosegregation of the PI Mmalton protein and the 3-bp deletion in the family in which this allele was originally described and in three other, unrelated kindreds. This deletion is found exclusively in PI Mmalton alleles and not in the normal M2 alleles from which, to judge on the basis of haplotype data, the Mmalton mutation must have been derived. In polyacrylamide isoelectric focusing (PIEF) gels, the isoelectric point of Mmalton is only slightly more cathodal than M2, a finding consistent with the loss of a single uncharged amino acid. To judge on the basis of X-ray crystallography data for the normal alpha 1AT protein, the deletion of aa 51/52 would shorten one strand of the beta sheet, B6, apparently preventing normal processing and secretion. |
| ISSN | 00029297 |
| e-ISSN | 15376605 |
| Journal | The American Journal of Human Genetics |
| Issue Number | 6 |
| Volume Number | 44 |
| Language | English |
| Publisher | Cell Press (on behalf of American Society of Human Genetics) |
| Publisher Date | 1989-06-01 |
| Publisher Place | United States |
| Access Restriction | Open |
| Subject Keyword | Chromosome Deletion Cloning, Molecular Alpha 1-antitrypsin Genetics Amino Acid Sequence Codon Gene Amplification Haplotypes Molecular Sequence Data Nucleic Acid Hybridization Alpha 1-antitrypsin Deficiency Research Support, Non-u.s. Gov't Discipline Human Genetics |
| Content Type | Text |
| Resource Type | Article |
| Subject | Genetics Genetics (clinical) |
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