Haellpolymorphism within 3′ untranslated region of PRAD1

Source and Description: The probe (pBSM 132-8b) is a 1.23-kb PstI cDNA fragment in plasmid Bluescript M13 (1). This cloned probe is from the 5' region of the human MX1 gene which encodes the interferon-induced p78 protein (2). Two PstI RFLPs for the MX1 gene have been described (3). Polymorphism: The MX1 probe shows a two-allele DNA polymorphism after Mspl digestion and Southern blotting with variable DNA fragments Al: 6.0 kb and A2: 7.0 kb. Frequency: The frequencies of the two alleles were determined in 77 unrelated Caucasians. The frequency of the 6.0-kb allele was 58% and the 7.0-kb allele was 42%. The observed heterozygosity was 0.48. Chromosomal Location: The human MX1 gene maps to 21q22.3 (4). Mendelian Inheritance: Co-dominant segregation of the restriction fragment length polymorphism was demonstrated in three families (9 individuals). Other Comments: We routinely perform genomic Mspl digestions at room temperature with 4 units//tg DNA. This polymorphism is observed under normal hybridization and wash conditions. Source/Description: PCR primers for the amplification of a 1223 bp fragment of the 3' untranslated region of the bell-linked gene PRAD1 (1).