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    Hum Genet. 1996 Oct;98(4):415-8.

    Identification of the nucleotide substitution that generates the fourth polymorphic site in human deoxyribonuclease I (DNase I).

    Iida R, Yasuda T, Takeshita H, Tsubota E, Yuasa I, Nakajima T, Kishi K.

    Department of Legal Medicine, Fukui Medical School, Japan.

    In addition to the three polymorphic sites responsible for protein polymorphism, a new polymorphic site has been identified in intron 7 of the human deoxyribonuclease I (DNase I) gene. Three phenotypes were observed on single-strand conformational polymorphism analysis of a 266-bp polymerase chain reaction-amplified fragment containing exon 7 and part of intron 7 of the human DNase I gene. DNA sequencing analysis demonstrated that a C-G substitution occurred at position 1978 in intron 7. This substitution was confirmed by restriction fragment length polymorphism analysis, since a new Msp1 site is created by the substitution. Population and family studies showed that the inheritance of the genotypes for DNase I C1978G polymorphism is controlled by two codominant alleles, tentatively designated DNASE1*1978C and *1978G. The gene frequencies in a Japanese population were significantly different from those in a Caucasian (German) population. The C1978G polymorphism is in linkage disequilibrium with the common DNase I protein phenotypes 1, 1-2, and 2.

    PMID: 8792814 [PubMed - indexed for MEDLINE]

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