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1.
Genes (Basel) ; 13(5)2022 05 20.
Artigo em Inglês | MEDLINE | ID: mdl-35627305

RESUMO

This study provides new data on the whole-exome sequencing of a cohort of children with autistic spectrum disorders (ASD) from an underexplored Russian population. Using both a cross-sectional approach involving a control cohort of the same ancestry and an annotation-based approach involving relevant public databases, we explored exonic single nucleotide variants and copy-number variation potentially involved in the manifestation of ASD. The study results reveal new potential ASD candidate-variants found in the studied Russian cohort and show a high prevalence of common ASD-associated genomic variants, especially those in the genes known to be associated with the manifestation of intellectual disabilities. Our screening of an ASD cohort from a previously understudied population allowed us to flag at least a few novel genes (IGLJ2, FAM21A, OR11H12, HIP1, PRAMEF10, and ZNF717) regarding their potential involvement in ASD.


Assuntos
Transtorno do Espectro Autista , Transtorno do Espectro Autista/genética , Criança , Estudos de Coortes , Variações do Número de Cópias de DNA , Genômica , Humanos , Sequenciamento do Exoma
2.
Clin Case Rep ; 6(1): 14-17, 2018 01.
Artigo em Inglês | MEDLINE | ID: mdl-29375829

RESUMO

This manuscript reports on genomewide epigenetic alterations in cri-du-chat syndrome related to a partial aneusomy of chromosome 5. A systematic analysis of these alterations will open up new possibilities for the prognostic evaluation of CDCS patients and the development of new therapeutic interventions for reducing the severity of the disease.

3.
Ann N Y Acad Sci ; 1011: 21-35, 2004 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-15126280

RESUMO

The discovery of mtDNA types common to Asians and Amerinds (types A, B, C, and D) forced investigators to search for those nations of Asia which, though not considered the ancestors of the Amerinds, have retained a close genetic resemblance with them. We collected samples and studied the gene pools of the Turkic-speaking nations of South Siberia: Altaians, Khakassians, Shorians, Tuvinians, Todjins, Tofalars, Sojots, as well as Mongolian-speaking Buryats. The data indicate that nearly all Turkic-speaking nations of Siberia and Central Asia, as well as the Buryats, have types A, B, C, and D in their gene pool. The highest total frequency of these types is observed in the Tuvinians and Sojots. They, as well as the Buryats, also have the lowest frequency of the europeoid types. The most mixed Asian-Europeoid gene pool examined turned out to be that of the Shorians. An important finding was the presence of type X in the Altaians, which had not yet been detected in Asia. As shown by computer analysis, this DNA sequence is not a late European admixture. Rather, the Altai variant X is ancient and can be close to the ancestral form of the variants of contemporary Europeans and Amerinds. The presented results prove that of all nations in Asia, the Turkic-speaking nations living between Altai and Baikal along the Sayan mountains are genetically closest to the Amerinds.


Assuntos
Povo Asiático/genética , DNA Mitocondrial/genética , Variação Genética , Genética Populacional , Indígenas Norte-Americanos/genética , América , Ásia Central , Povo Asiático/classificação , Frequência do Gene , Pool Gênico , Humanos , Filogenia , Análise de Sequência de DNA
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