排序方式: 共有3条查询结果,搜索用时 15 毫秒
1
1.
Romashchenko AG Kuznetsova TN Ruzankina IaS Kostenko MV Kobzev VF Kulikov IV Konchuk Ch Voevoda MI 《Genetika》2002,38(1):33-40
Two polymorphic sites were found in the human c-fms gene: one (G-->A) was in position 34,047 in the last intron, and the other (dinucleotide TC-->CA) was in positions 34,293 and 34,294 in the 3'-untranslated gene region, 34 bp downstream of the translation stop codon. The polymorphic dinucleotide appeared to be immediately upstream of an octamer showing 100% homology to cis element -CAAACTTC-, which is responsible for controlled instability of mRNAs of several genes. Based on these data, functional significance was assumed for this polymorphism of the c-fms gene. Allele frequencies were established for several populations. The mutant allele of the polymorphism located in the intron were detected only in one family of ethnic Germans from the Altaiskii krai. Polymorphism of the second site, which is in the 3'-untranslated region of the c-fms gene, was observed in all Caucasoid and Mongoloid populations examined. Frequency of the rare allele varied from 19.7-25% in Arctic Mongoloids to 31-42.6% in Central Asian Mongoloids and was similar in two Caucasoid populations (22.6% in ethnic Russians and 26.5% in ethnic Germans). The wide distribution of the mutant allele in human populations of the two races was considered indicative of an adaptive role of the polymorphism in providing a certain level of the gene product, a receptor, in certain cell processes. 相似文献
2.
N. S. Yudin V. Vinogradov Sergey Tatyana A. Potapova Tatyana M. Naykova Violetta V. Sitnikova Igor V. Kulikov Viacheslav I. Khasnulin Cheche Konchuk Pavel E. Vloschinskii Sergey V. Ivanov Viktor F. Kobzev Aida G. Romaschenko Mikhail I. Voevoda 《Human genetics》1998,102(6):695-698
32-bp inactivating deletion in the β-chemokine receptor 5 (CCR5) gene, common in Nothern European populations, is associated
with reduced HIV-1 transmission risk and delayed disease progression. We have studied the deletion distribution in many populations
in Eurasia by polymerase chain reaction analysis of 531 DNA samples representing West and East Siberian, Central Asian, and
Far Eastern parts of Russia. An unusually high frequency (11.1%) of the deleted variant in natives of West Siberia, of Finno-Ugrian
descent, was observed. Furthermore, the deletion was infrequent in indigenous populations of Central Asia, East Siberia, the
Russian Far East, and Canada. We conclude that the Δccr5 distribution is limited primarily to Europeans and related western
Siberian Finno-Ugrian populations, with a sharp negative gradient toward the east along the territory of Russian Asia.
Received: 22 December 1997 / Accepted: 24 March 1998 相似文献
3.
Romaschenko A. G. Kouznetsova T. N. Ruzankina Ya. S. Kostenko M. V. Kobzev V. F. Kulikov I. V. Konchuk Ch. Voevoda M. I. 《Russian Journal of Genetics》2002,38(1):25-31
Two polymorphic sites were found in the human c-fms gene: one (G A) was in position 34047 in the last intron, and the other (dinucleotide TC CA) was in positions 34 293 and 34 294 in the 3"-untranslated gene region, 34 bp downstream of the translation stop codon. The polymorphic dinucleotide appeared to be immediately upstream of an octamer showing 100% homology to cis element –CAAACTTC–, which is responsible for controlled instability of mRNAs of several genes. Based on these data, functional significance was assumed for this polymorphism of the c-fms gene. Allele frequencies were established for several populations. The mutant allele of the polymorphism located in the intron were detected only in one family of ethnic Germans from the Altaiskii krai. Polymorphism of the second site, which is in the 3"-untranslated region of the c-fms gene, was observed in all Caucasoid and Mongoloid populations examined. Frequency of the rare allele varied from 19.7–25% in Arctic Mongoloids to 31–42.6% in Central Asian Mongoloids and was similar in two Caucasoid populations (22.6% in ethnic Russians and 26.5% in ethnic Germans). The wide distribution of the mutant allele in human populations of the two races was considered indicative of an adaptive role of the polymorphism in providing a certain level of the gene product, a receptor, in certain cell processes. 相似文献
1