کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
1967228 1538724 2009 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Caucasian-specific allele in non-synonymous single nucleotide polymorphisms of the gene encoding deoxyribonuclease I-like 3, potentially relevant to autoimmunity, produces an inactive enzyme
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی زیست شیمی
پیش نمایش صفحه اول مقاله
Caucasian-specific allele in non-synonymous single nucleotide polymorphisms of the gene encoding deoxyribonuclease I-like 3, potentially relevant to autoimmunity, produces an inactive enzyme
چکیده انگلیسی

BackgroundDeoxyribonuclease I-like 3 (DNase Il3), a member of human DNase I family, is postulated to be involved in the genesis of autoimmune diseases. In the DNase Il3 gene, 2 non-synonymous SNPs, R178H and R206C, have been identified, however relevant population data are not available.MethodsGenotyping of the SNPs was performed in healthy subjects belonging to 3 ethnic groups (n = 1708), including nine different populations, using an amplification refractory mutation system and the PCR-RFLP technique.ResultsAll of the 9 populations were typed as a single genotype in R178H. All Asian and African populations exhibited only a homozygous C686 allele in R206C, whereas a heterozygote, C686/T686, was found (frequency of 3.5–15.4%) in three Caucasian populations (Turk, German and Mexican); Caucasian-specific allele T686 was identified. The substitution of Arg by Cys corresponding to R206C resulted in elimination of DNase Il3 activity.ConclusionA Caucasian-specific allele in SNP R206C produces an inactive form of DNase Il3. It seems plausible that levels of DNase Il3 activity in Caucasian subjects with the heterozygote in R206C are lower than those in individuals with the predominant homozygote. Our results may have clinical implications in relation to the prevalence of autoimmune diseases.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Clinica Chimica Acta - Volume 407, Issues 1–2, 3 September 2009, Pages 20–24
نویسندگان
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