A single round PCR method for genotyping human surfactant protein (SP)-A1, SP-A2 and SP-D gene alleles

P Pantelidis; A L Lagan; J C Davies; K I Welsh; R M du Bois

doi:10.1034/j.1399-0039.2003.00038.x

A single round PCR method for genotyping human surfactant protein (SP)-A1, SP-A2 and SP-D gene alleles

Tissue Antigens. 2003 Apr;61(4):317-21. doi: 10.1034/j.1399-0039.2003.00038.x.

Authors

P Pantelidis¹, A L Lagan, J C Davies, K I Welsh, R M du Bois

Affiliation

¹ Clinical Genomics Group, Interstitial Lung Disease Unit, Department of Occupational and Environmental Medicine, London, UK. pantelidis@gstt.sthames.nhs.uk

PMID: 12753670
DOI: 10.1034/j.1399-0039.2003.00038.x

Abstract

The genes coding for the human surfactant proteins (SP)-A and SP-D are located on chromosome 10q22-q23.1. SP-D is the product of a single gene whereas SP-A is the product of two highly homologous genes SP-A1 and SP-A2. Several single nucleotide polymorphisms (SNP) are present in the SP-A1, SP-A2 and SP-D genes. Because of this high degree of sequence homology between the SP-A1 and SP-A2 genes, current genetic analysis studies employ a nested PCR/radioactive hybridization or restriction fragment length polymorphism approach to initially isolate the genes and subsequently to detect the SNP in these isolates. In this manuscript, we report the primers and conditions of a sequence specific primer-PCR methodology that enables the identification of SP-A1, SP-A2 and SP-D gene allelic variants directly on genomic DNA material.

MeSH terms

Alleles*
DNA Primers
Genotype
Humans
Polymerase Chain Reaction*
Polymorphism, Single Nucleotide
Pulmonary Surfactant-Associated Protein A / genetics*
Pulmonary Surfactant-Associated Protein D / genetics*

Substances

DNA Primers
Pulmonary Surfactant-Associated Protein A
Pulmonary Surfactant-Associated Protein D