Ethnic Differences in Enzyme and DNA Polymorphisms of Human Tissue-Specific Alkaline Phosphatases

Abstract

Enzyme and DNA polymorphisms and haplotypes of tissue-specific alkaline phosphatase genes were studied in Finns, Saamis and Swedes. In placental alkaline phosphatase (PLAP) restriction fragment length polymorphisms (RFLPs), found after digestion with RsaI and PstI, no significant population differences were observed. The PstI RFLP of the germ cell alkaline phosphatase (GCAP) locus showed significant allele frequency variations between Finns and Swedes (p = 0.014) and between Saamis and Swedes (p = 1 × 10^–4). Electrophoretic enzyme variants of PLAP were studied in Finns and Swedes. The PLAP variant 18 (D in older nomenclature) was found at a polymorphic frequency in the Finnish sample. In all populations, strong linkage disequilibria were found between the RFLPs and between RFLPs and electrophoretic PLAP types. There was, however, one notable exception: between the Rsal RFLP of PLAP and the PstI RFLP of GCAP no linkage disequilibrium was found. Two new RFLPs were observed in the Finnish population sample, a RsaI mutant site in PLAP with a frequency of 0.02 and a KpnI mutant site outside and upstream of the PLAP gene with a frequency of 0.036. In accordance with findings in previous studies at the enzyme level, PLAP also appeared to be more polymorphic than GCAP and intestinal alkaline phosphatase at the DNA level.

Structure, genomic DNA typing, and kinetic characterization of the D allozyme of placental alkaline phosphatase (PLAP/ALPP)

“…DNA samples were collected from spontaneous abortuses from northern Sweden (n = 60) (Umeå Hospital region) and northern Finland (n = 45) (Uleåborg Hospital region). Control samples from these hospital regions were available from previous investigations [Beckman, 1970;Beckman et al, 1994]. DNA extracted from spontaneous abortion materials was analyzed by the SNuPE assay and frequencies of the D allele compared to control populations.…”

“…One of these rare alleles, D, was first thought to be restricted to Africans [Boyer, 1961] where it has been found at a frequency of about 0.8%. The D allele is apparently absent in Asian populations [Beckman, 1970] but has been found in most European ethnic groups, with the highest frequency (1.4%) found in Finns [Beckman et al, 1994]. Results from previous investigations have suggested that PLAP types of both the F and D alleles may be involved in intrauterine selection [G. Beckman and Beckman, 1975].…”

Association of a Vitamin D Receptor Gene Polymorphism With Localized Early‐Onset Periodontal Diseases

“…Other genetic variants which may contribute to susceptibility to EOP include polymorphic genes which encode other mediators of connective tissue homeostasis such as transforming growth factor-β, estrogen, alkaline phosphatase, type I collagen, and the transcription factor SP1. 12,41 Additionally, another polymorphism in the start codon of the VDR gene has recently been described and which also seems to correlate with BMD in different populations. 42,43 Several mediators of tissue inflammation also influence connective tissue turnover in particular in response to bacterial infection.…”

DNA Polymorphisms and Haplotypes of Human Liver/Bone/Kidney Alkaline Phosphatase in Finns, Saamis and Swedes

“…The Saamis are a genetically unique population which has been found to differ from other Eu ropean populations in most examined marker systems including a Pst 1 RFLP in GCAP [17][18][19]. One notable exception is two RFLPs in PLAP [19].…”