RESUMO
The methylation status of the FMR1 gene promotor was studied in 8 patients with detected CGG-expansion or negative PCR analysis (CGG-expansion or deletion). In all these causes the methylation status was detected. The modified PCR protocol of Hin6.I-restricted DNA has been proposed for performing diagnosis, postnatal and prenatal diagnostics and for screening patients with mental retardation and newborn boys.
Assuntos
Metilação de DNA , Síndrome do Cromossomo X Frágil/genética , Proteínas do Tecido Nervoso/genética , Regiões Promotoras Genéticas , Proteínas de Ligação a RNA , Sequência de Bases , Primers do DNA , Proteína do X Frágil da Deficiência Intelectual , Síndrome do Cromossomo X Frágil/complicações , Síndrome do Cromossomo X Frágil/diagnóstico , Humanos , Recém-Nascido , Deficiência Intelectual/genética , Masculino , UcrâniaRESUMO
The results of molecular-genetic analysis of 12 mini- and microsatellite loci in populations of different regions of Ukraine (Kiev, Kremenchug, L'vov, Lugansk, and in Crimea tatars) were presented. Allele frequencies for each locus were determined and genetic distances between analyzed populations were calculated. The results of the analysis were applied for investigation of genetic heterogeneity and biological history of populations from different regions of Ukraine.
Assuntos
Repetições de Microssatélites , Polimorfismo Genético , Alelos , Mapeamento Cromossômico , DNA/genética , Feminino , Frequência do Gene , Variação Genética , Humanos , Masculino , Sequências Repetitivas de Ácido Nucleico , Ucrânia , População UrbanaRESUMO
Results of analysis of chimeric SMN genes among some high SMA-risk families from Ukraine using the EcoRV and DdeI restriction enzyme hydrolysis of PCR products is presented. Chimeric cen/telSMN gene was detected in probands with homozygous deletions of telSMN exon 7 only, as well in proband with absent of homozygous deletion of exons 7 and/or 8 of the SMN gene. Effectivity of approach of detection of chimeric SMN genes based on the EcoRV and DdeI restriction enzyme analysis of PCR products and mechanisms of formation of chimeric SMN genes are discussed.
Assuntos
Neurônios Motores/fisiologia , Mutação/genética , Proteínas do Tecido Nervoso/genética , Proteínas Recombinantes de Fusão/genética , Atrofias Musculares Espinais da Infância/genética , Sequência de Bases , Criança , DNA/genética , Primers do DNA , Éxons/genética , Deleção de Genes , Homozigoto , Humanos , Biologia Molecular , Dados de Sequência Molecular , Reação em Cadeia da Polimerase/métodos , Fatores de Risco , Atrofias Musculares Espinais da Infância/diagnóstico , UcrâniaRESUMO
The results of DNA analysis of deletion in exons 7 and 8 of SMN gene, and exon 5 of NAIP gene in 24 SMA-families from Ukraine are presented. Deletions of SMN exons 7 and 8, or 7 were found in 46 (97.9%) of 47 SMA-chromosomes. A homozygous deletion of NAIP exon 5 was demonstrated in 4 (19%) of 21 SMA-families. The authors have demonstrated that in 2 SMA patients with homozygous deletion SMN exon 7 only, the remaining SMN exon 8 was a part of a chimeric CBCD41/SMN gene.
