DNA RESTRICTION-SITE POLYMORPHISMS ASSOCIATED WITH THE ALPHA1-ANTITRYPSIN GENE
- 1 November 1987
- journal article
- research article
- Vol. 41 (5) , 891-906
Abstract
Restriction-site variation in and around the .alpha.1-antitrypsin gene has been studied using two genomic probes. With use of restriction enzymes SstI, MspI, and AvaII, three polymorphic sites have been described with a 4.6-kb probe in the 5'' portion of the gene. With use of a 6.5-kb probe, polymorphisms in the coding and 3'' regions of the gene have been detected with AvaII, MaeIII, and TaqI. All of these polymorphisms are of sufficiently high frequency to be useful in genetic mapping studies. The polymorphisms with AvaII and MaeIII (6.5-kb probe) are particularly useful for prenatal diagnosis. PI types and M subtypes tend to be associated with specific DNA haplotypes; there are two different types of DNA haplotypes associated with PI M1. The extent of linkage disequilibrium differs throughout the region of the .alpha.1-antitrypsin gene.This publication has 23 references indexed in Scilit:
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