Study progress on association analysis of single nucleotide polymorphism in genetic susceptibility of preterm birth / 中华实用儿科临床杂志

Etiology and mechanism of preterm birth are very complicated.Genetic susceptibility is a key factor which shouldn't be ignored.The genetics studies carried on preterm birth are mostly based on association analysis of single nucleotide polymorphism markers to study the susceptibility of preterm birth.Inflammation genes(INF-γ gene,IL-1A gene,IL-1B gene,IL-6 gene,IL-10 gene,IL-12 gene,TNF-α gene),folic acid utilization capacity related genes (MTHFR gene,DHFR gene,MTR gene,MTRR gene,SHMT1 gene),vitamin C transportation and toxicant metabolism related genes(CYP1A1 gene,CYP2A6 gene,CYP2D6 gene,CYP2E1 gene,SLC23A1 gene,SLC23A2 gene) and coagulation related genes (coagulation factor,prothrombin,vascular endothelial growth factor,angiotensin-converting enzyme,angiotensinogen,paraoxonase) are associated with risk of preterm birth.A part of the cases with preterm delivery were the result of synergistic effect of both genetic susceptibility and environmental factors.SNP polymorphism decides the capacity of metabolism of poisonous substances and inflammation susceptibility,which in turn has influence on the reprodutive risk and delivery outcome after exposed by environmental toxicants and pathogenic organisms.The polymorphism is different among different regions and different races,so different population may have different risk markers for preterm birth.Genotyping of susceptibility genes may be helpful for reducing the preterm birth,so it's an urgent necessity to lead a population-based genetics study on preterm birth.

Application of next-generation sequencing technology for genetic diagnosis of Duchenne muscular dystrophy / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To detect genetic causes of Duchenne muscular dystrophy (DMD).</p><p><b>METHODS</b>Next-generation sequencing was used to detect 6 DMD patients in whom no exonic deletions were detected by multiplex PCR. Sanger sequencing and multiplex ligation-dependent probe amplification were used to confirm the results.</p><p><b>RESULTS</b>One case was found to have deletions of exons 10 and 11, 1 had exons 16 and 17 duplication, 4 cases have 8 point mutations including c.2776C>T, c.5475delA, c.6391_6392delCA, IVS64+1G>A, c.2645A>G, c.5244G>A, c.7728T>C, c.8729A>T, c.8734A>G and c.8810G>A. The former 4 mutations are suspicious pathogenicity, the other 6 mutations are polymorphisms in population. Three novel mutations (IVS64+1G>A, c.6391_6392delCA (p.Q2131NfsX3) and p.Q926X (CAG>TAG) were not reported before.</p><p><b>CONCLUSION</b>Next-generation sequencing technology is a useful tool for the detection of deletion, duplication and point mutation, which is valuable for clinical application.</p>

Analysis of GJB2 gene and mitochondrial DNA A1555G mutations in 16 families with non-syndromic hearing loss / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To screen for genetic mutations in families featuring non-syndromic hearing loss.</p><p><b>METHODS</b>Sixteen families with non-syndromic hearing loss were interviewed to identify medical histories by a questionnaire. Audiological and neurological examinations were conducted for all families. Coding regions of GJB2 and 12S rRNA genes were amplified and sequenced.</p><p><b>RESULTS</b>Of the 17 patients with sensorineural hearing loss, 3 were homozygous mutation for GJB2 235 delC, 1 was 235 delC heterozygous mutation, 1 was 235 delC+299_300 delAT compound heterozygous mutation, and 6 were 79G>A+341G>A heterozygosis in cis mutation. No 1555A>G mutation of mitochondrial DNA (mtDNA) was found in the 16 families.</p><p><b>CONCLUSION</b>The incidence of mtDNA 12S rRNA 1555A>G mutation in Jiangsu province may be lower than the average across China. Mutations of GJB2 genes may account for as much as 64.7% of non-syndromic hearing loss in this study. Screening for such mutations and genetic counseling may play an important role in the prevention of hereditary hearing loss.</p>

Genetic screening of mutation hot-spots for nonsyndromic hearing loss in southern Jiangsu province with SNaPshot / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the mutation frequency in 7 mutation hot-spots of deafness gene in southern Jiangsu province and verify the performance of the SNaPshot technology platform, designed for genetic screening of non-syndromic hearing loss (NSHL) in Chinese.</p><p><b>METHODS</b>One hundred and twenty-five NSHL patients were enrolled. Amplification of 235delC, 299-300delAT in GJB2 gene, IVS7-2A>G, 2168 A>G in SLC26A4 gene, and 1555A>G, 7445 A>G and 3243 A>G in mitochondrial DNA (mtDNA) was performed using multiplex polymerase chain reaction (PCR) technology. Afterwards, the sequence-specific probe interrogated each locus and labeled it at the 3' end using fluorescent dideoxynucleotide chemistry by the SNaPshot Multiplex Kit, the resulting products were then separated electrophoretically in ABI PRISM R 3130 Genetic Analyzer and analyzed in the presence of a fifth-dye-labeled size standard. Finally, the genotyping results were verified by direct sequencing or PCR-restriction fragment length polymorphism (PCR-RFLP).</p><p><b>RESULTS</b>(1) The total mutation frequency for the 7 mutation hot-spots was 53.6%. The mutation frequency of 235delC was 24.0%, 299-300delAT was 5.6% in the GJB2 gene, IVS7-2A>G was 15.2%, 2168A>G was 3.2% in the SLC26A4 gene. The mutation frequency of 1555A>G and 7445 A>G in mtDNA was 4.8% and 0.8% respectively. The mutation 3243 A>G was not detected. (2) The SNaPshot results were consistent with that from direct sequencing or PCR-RFLP, and the specificity and sensitivity of detection were 100%.</p><p><b>CONCLUSION</b>(1) More than half of the patients with deafness in southern Jiangsu province carry the mutations of the seven hot-spots. (2) The genetic screening technology platform based on SNaPshot can detect 7 mutations in one reaction, and is efficient and suitable for clinical practice.</p>

Clinical detection of 22q11 microdeletion in the patients with congenital heart disease by multiplex ligation dependent probe amplification / 中华儿科杂志

<p><b>OBJECTIVE</b>To detect 22q11 microdeletion in the children and fetuses affected by congenital heart defects.</p><p><b>METHOD</b>MLPA P250 kit was used to detect 22q11 microdeletion in 100 cases of sporadic congenital heart defects including 40 fetuses and 60 patients diagnosed by ultrasound.</p><p><b>RESULT</b>Two cases from the fetuses and 1 case from the patients were found to have 22q11 microdeletion.</p><p><b>CONCLUSION</b>Three cases had 22q11 microdeletion in the congenital heart defects.</p>

22q11 microdeletion test in patients with congenital heart defects by quantitative fluorescent PCR / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To establish an assay for screening chromosome 22q11 microdeletion efficiently, and apply it for detecting del22q11 in patients with non-syndromic congenital heart defects (CHD).</p><p><b>METHODS</b>Seventy nine patients with non-syndromic CHD and 84 normal controls were genotyped for 8 short tandem repeat (STR) markers located in 22q11 region, by using quantitative fluorescence polymerase chain reaction (QF-PCR).</p><p><b>RESULTS</b>The average heterozygosity of the STR markers in patients and controls was 0.76 and 0.79, respectively. One patient with Tetralogy of Fallot (TOF) from the 79 CHD cases (1.3%) was found to have a deletion within chromosome 22q11.2, which was confirmed by multiplex ligation-dependent probe amplification (MLPA).</p><p><b>CONCLUSION</b>The QF-PCR assay developed in this study was a reliable and an efficient alterative approach to screen for 22q11 microdeletion in clinical diagnosis and genetic counseling.</p>

Research on the illuminance characteristics of LED surguical luminaire / 中国医疗器械杂志

The illuminance characteristics of LED (Lighting Emitting Diode) Surgical Luminaire is researched in this paper from the aspects of the LED Single-tube illumination analysis, LED arrays distribution and lighting design. The facula distribution characteristics of the LED prototype and multi-facet entirety reflection Surgical Luminaire is tested and compared according to the standards. The results of experimental show that LED prototype can fully meet the surgical illumination requirements, and the LED's own characteristics and further development will greatly broaden the space of medical lighting.