Application of SNaPshot Technology in Semen-Specific cSNP Genetic Marker.

OBJECTIVES: To explore the feasibility of genetic marker detection of semen-specific coding region single nucleotide polymorphism (cSNP) based on SNaPshot technology in semen stains and mixed body fluid identification. METHODS: Genomic DNA (gDNA) and total RNA were extracted from 16 semen stains and 11 mixtures composed of semen and venous blood, and the total RNA was reverse transcribed into complementary DNA (cDNA). The cSNP genetic markers were screened on the validated semen-specific mRNA coding genes. The cSNP multiplex detection system based on SNaPshot technology was established, and samples were genotyped by capillary electrophoresis (CE). RESULTS: A multiplex detection system containing 5 semen-specific cSNPs was successfully established. In 16 semen samples, except the cSNP located in the TGM4 gene showed allele loss in cDNA detection results, the gDNA and cDNA typing results of other cSNPs were highly consistent. When detecting semen-venous blood mixtures, the results of cSNP typing detected were consistent with the genotype of semen donor and were not interfered by the genotype of venous blood donor. CONCLUSIONS: The method of semen-specific cSNPs detection by SNaPshot technology method can be applied to the genotyping of semen (stains) and provide information for determining the origin of semen in mixed body fluids (stains).

Application of SNaPshot Technology in Semen-Specific cSNP Genetic Marker / 法医学杂志

OBJECTIVES@#To explore the feasibility of genetic marker detection of semen-specific coding region single nucleotide polymorphism (cSNP) based on SNaPshot technology in semen stains and mixed body fluid identification.@*METHODS@#Genomic DNA (gDNA) and total RNA were extracted from 16 semen stains and 11 mixtures composed of semen and venous blood, and the total RNA was reverse transcribed into complementary DNA (cDNA). The cSNP genetic markers were screened on the validated semen-specific mRNA coding genes. The cSNP multiplex detection system based on SNaPshot technology was established, and samples were genotyped by capillary electrophoresis (CE).@*RESULTS@#A multiplex detection system containing 5 semen-specific cSNPs was successfully established. In 16 semen samples, except the cSNP located in the TGM4 gene showed allele loss in cDNA detection results, the gDNA and cDNA typing results of other cSNPs were highly consistent. When detecting semen-venous blood mixtures, the results of cSNP typing detected were consistent with the genotype of semen donor and were not interfered by the genotype of venous blood donor.@*CONCLUSIONS@#The method of semen-specific cSNPs detection by SNaPshot technology method can be applied to the genotyping of semen (stains) and provide information for determining the origin of semen in mixed body fluids (stains).

Research progress on the relationship between noncoding region of singlenucleotide polymorphism and noise-induced hearing loss / 中国职业医学

@#Abstract: - （ ） ， Noise induced hearing loss NIHL is a hearing disorder that seriously harms the health of workers and it is a （ ） complex disease caused by environmental and genetic factors. Single nucleotide polymorphism SNP is the most common ， （ ） genetic variation which is associated with the occurrence and development of NIHL. MicroRNA miRNA is a kind of small - - ， - non codingsingle strandedRNA whichishighlyexpressedinthecochleaandregulatesgenesbybindingtothe3′ untranslated （ ） - regionoftargetmessengerRNA mRNA .SNPofmiRNA isthemostcommongeneticvariation.SNPinthenon codingregion， participates in gene expression regulation and phenotype generation by leading to abnormal miRNA recruitment thereby， affecting the occurrence and development of NIHL. The genetic susceptibility genes of NIHL include oxidative stress genes - singlegenedeafnessgenesandheatshockproteingenes.TheSNPinthenon codingregionisassociatedwiththesusceptibility， of NIHL. miRNA SNP has been confirmed to be involved in the development of NIHL but the correlation between different miRNASNPandNIHLisdifferent.SNPaffectsthesusceptibilityofNIHLbyaffectingtheexpressionandfunctionofmiRNA.