RESUMEN
<p><b>OBJECTIVE</b>To analyze the clinical manefestation and genetic basis of split hand and foot malformation (SHFM) in a Chinese pedigree.</p><p><b>METHODS</b>The affected people in the family were checked by X-rays. Eighteen patients provided their peripheral blood, and the genomic DNA of the samples was extracted. The linkage and haplotype analysis were carried out using the microsatellite markers, and the limb malformation related gene Dactylin (DAC) including the coding region, exon-intron boundaries and part of promoter region was sequenced.</p><p><b>RESULTS</b>Most members of the family with the disease phenotype showed absence or hypoplasia of the index finger, and absence or 3-4 syndactyly of the middle finger. The degree of abnormality in feet was severer than that in hands. All phenotypes of the patients display the basic characters of SHFM. Since the maximum two point LOD score of the D10S192 was 3.50 (theta=0.00), the SHFM in this pedigree can be categorized to the SHFM3. The haplotype analysis of recombination events revealed the candidate locus to a 21cM region between D10S185 and D10S1693. No mutation was found by the sequencing result of DAC gene.</p><p><b>CONCLUSION</b>Through the analysis of phenotype of the patients, the typical SHFM disease can be confirmed. The linkage and haplotype analysis demonstrated that the 21cM region in 10q23-q26 locus was the major cause to the disease in this pedigree. The mutation of DAC gene can be excluded from cause of SHFM3 phenotype.</p>
Asunto(s)
Adulto , Femenino , Humanos , Masculino , Pueblo Asiatico , Genética , Mapeo Cromosómico , Deformidades Congénitas del Pie , Genética , Deformidades Congénitas de la Mano , Genética , Haplotipos , Genética , LinajeRESUMEN
<p><b>OBJECTIVE</b>To identify the possible mutation at possible sites in different mitochondrial genes that leads to hearing loss in a large Chinese pedigree.</p><p><b>METHODS</b>Blood samples from a Hunan pedigree were obtained with informed consent. Genomic DNA was extracted from peripheral blood leukocytes using kit. The target fragments were amplified and detected by polymerase chain reaction (PCR) and directly sequencing respectively.</p><p><b>RESULTS</b>The result of direct sequencing revealed the A1555G mutation in 12S rRNA gene was inherited in this pedigree and no one has A7445G mutation or other mutations in its neighborhood region.</p><p><b>CONCLUSION</b>Sequence analysis confirmed that the pedigree carries the A1555G mutation. With some members ever exposure of aminoglycoside antibiotics, mutation of A1555G may play a pivotal role in the pathogenesis of hearing loss in the large pedigree.</p>
Asunto(s)
Femenino , Humanos , Masculino , Secuencia de Bases , China , Análisis Mutacional de ADN , ADN Mitocondrial , Química , Genética , Salud de la Familia , Pérdida Auditiva , Genética , Matrimonio , Linaje , Reacción en Cadena de la Polimerasa , ARN Ribosómico , Genética , ARN de Transferencia de Serina , GenéticaRESUMEN
<p><b>OBJECTIVE</b>To investigate the relationship between two polymorphisms (Intronic VNTR and 5-HTTLPR) of the serotonin transporter gene and schizophrenia.</p><p><b>METHODS</b>A set of 314 schizophrenic trio samples collected from Shanghai, Xi'an and Jilin regions of China independently was subjected to analysis of the polymorphisms by transmission/disequilibrium test(TDT).</p><p><b>RESULTS</b>No significantly preferential transmission of any allele was detected from both polymorphisms investigated.</p><p><b>CONCLUSION</b>The results suggest that the serotonin transporter gene is unlikely to have a major contribution to susceptibility to schizophrenia in Han Chinese population.</p>