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OBJECTIVE@#To explore the genetic basis for 4 patients with globozoospermia.@*METHODS@#Semen and blood samples were collected from the patients for the determination of sperm concentration, viability, survival rate, morphology and acrosome antigen CD46. Meanwhile, DNA was extracted for whole exome sequencing (WES), and candidate variants were validated by Sanger sequencing.@*RESULTS@#All of the four patients were found to harbor variants of the DPY19L2 gene. Patients 1 ~ 3 had homozygous deletions of the DPY19L2 gene. Sanger sequencing confirmed that the DPY19L2 gene in patient 3 was disrupted at a recombination breakpoint area BP2, resulting in nonallelic homologous recombination and complete deletion of the DPY19L2 gene. Patients 2 and 3 respectively harbored novel homozygous deletions of exons 2 ~ 22 and exons 14 ~ 15. Patient 4 harbored heterozygous deletion of the DPY19L2 gene, in addition with a rare homozygous deletion of the 3' UTR region.@*CONCLUSION@#DPY19L2 gene variants probably underlay the globozoospermia in the four patients, which has fit an autosomal recessive pattern of inheritance and the characteristics of genomic diseases.
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Masculino , Humanos , Teratozoospermia/genética , Homocigoto , Semen , Eliminación de Secuencia , Regiones no Traducidas 3' , Proteínas de la MembranaRESUMEN
Objective@#To analyze genetic variant in a pedigree affected with congenital high myopia.@*Methods@#Whole exome sequencing (WES) was carried out for the proband. Suspected variation was verified with Sanger sequencing. The pedigree was also subjected to co-segregation analysis.@*Results@#WES has identified a novel splice site heterozygous variant (c.2556+ 1G>A) in the COL11A1 gene in the proband. Co-segregation analysis of the pedigree showed that the affected mother and two daughters of the proband have carried the same variant(c.2556+ 1G>A), while his unaffected father and sister did not. Based on the ACMG Standards and Guidelines for the Interpretation of Sequence Variants, the variant was classified as "likely pathogenic" (PVS1+ PM2).@*Conclusion@#A novel splice variant (c.2556+ 1G>A) of the COL11A1 gene has been identified in a pedigree affected with congenital high myopia, which probably underlies the disease.
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OBJECTIVE@#To analyze genetic variant in a pedigree affected with congenital high myopia.@*METHODS@#Whole exome sequencing (WES) was carried out for the proband. Suspected variation was verified with Sanger sequencing. The pedigree was also subjected to co-segregation analysis.@*RESULTS@#WES has identified a novel splice site heterozygous variant (c.2556+1G>A) in the COL11A1 gene in the proband. Co-segregation analysis of the pedigree showed that the affected mother and two daughters of the proband have carried the same variant(c.2556+1G>A), while his unaffected father and sister did not. Based on the ACMG Standards and Guidelines for the Interpretation of Sequence Variants, the variant was classified as "likely pathogenic" (PVS1+PM2).@*CONCLUSION@#A novel splice variant (c.2556+1G>A) of the COL11A1 gene has been identified in a pedigree affected with congenital high myopia, which probably underlies the disease.
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Humanos , Colágeno Tipo XI , Genética , Pruebas Genéticas , Heterocigoto , Miopía , Genética , Linaje , Secuenciación del ExomaRESUMEN
Panax japonicas C.A. Meyd are mostly produced in southwestern China. It is widely used by Tujia and Miao nationality. It has the actions of reinforcing deficiency and being strong, reducing swelling and paln, dissolving stasis and stopping bleeding. Total saponins ofPanax japonicas (TSPJ) are principal active component ofPanax japonicas C.A. Meyd. The researchers found that it had remarkable therapeutic effects on the diseases, especially rheumatism and cardio-cerebrovascular in recent years. This article is to summarize the pharmacological actions of TSPJ and to provide the references for future studies.
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<p><b>OBJECTIVE</b>To screen for mutations in the neurotrophic tyrosine kinase receptor type 1 (NTRK1) gene in a Chinese family affected with congenital insensitivity to pain with anhidrosis (CIPA).</p><p><b>METHODS</b>With informed consent obtained, peripheral blood samples were obtained from the patient and his family members. Seventeen coding exons and intron-exon boundaries of the NTRK1 gene were amplified with PCR and analyzed by direct sequencing.</p><p><b>RESULTS</b>A novel mutation c.2086_2087insC (p.Arg696 fsx) was identified in exon 16 of the NTRK1 gene in the proband. This insertion has caused open reading frame shifting and a premature termination has occurred just one codon downstream. Truncation of 72 amino acids at the C terminus has wiped out part of the tyrosine kinase domain (TKD) of the protein. Both of the proband's parents and two grandmothers have carried the c.2086_2087insC (p.Arg696 fsx) mutation. No mutation was found in the NTRK1 gene of other siblings.</p><p><b>CONCLUSION</b>Mutation analysis of the NTRK1 gene has been carried out in a Chinese family affected with CIPA, and a novel NTRK1 gene mutation was identified.</p>
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Preescolar , Humanos , Masculino , Secuencia de Bases , Análisis Mutacional de ADN , Exones , Genética , Neuropatías Hereditarias Sensoriales y Autónomas , Genética , Mutación , Reacción en Cadena de la Polimerasa , Receptor trkA , GenéticaRESUMEN
0.05 ),the levels of CSF TGF ? 1 were higher significantly than that of plasma levels and CSF in the controls( P