scholarly journals Highlights from the 15th International Congress of Twin Studies/Twin Research: Differentiating MZ Co-twins Via SNPs; Mistaken Infant Twin-Singleton Hospital Registration; Narcolepsy With Cataplexy; Hearing Loss and Language Learning/Media Mentions: Broadway Musical Recalls Conjoined Hilton Twins; High Fashion Pair; Twins Turn 102; Insights From a Conjoined Twin Survivor

2015 ◽  
Vol 18 (1) ◽  
pp. 108-115
Author(s):  
Nancy L. Segal
Keyword(s):  
Hearing Loss ◽  
Single Nucleotide Polymorphisms ◽  
Language Learning ◽  
Twin Studies ◽  
Conjoined Twins ◽  
International Congress ◽  
Nucleotide Polymorphisms ◽  
Childhood Onset ◽  
Single Nucleotide ◽  
Broadway Musical

Highlights from the 15th International Congress of Twin Studies are presented. The congress was held November 16–19, 2014 in Budapest, Hungary. This report is followed by summaries of research addressing the differentiation of MZ co-twins by single nucleotide polymorphisms (SNPs), an unusual error in infant twin-singleton hospital registration, twins with childhood-onset narcolepsy with cataplexy, and the parenting effects of hearing loss in one co-twin. Media interest in twins covers a new Broadway musical based on the conjoined twins Violet and Daisy Hilton, male twins becoming famous in fashion, twins who turned 102 and unique insights from a conjoined twin survivor.

A fully integrated SNP genotyping system for hereditary hearing-loss detection

Lab on a Chip ◽  
2022 ◽  
Author(s):  
Nan Li ◽  
Yuanyue Zhang ◽  
Minjie Shen ◽  
Youchun Xu
Keyword(s):  
Hearing Loss ◽  
Early Intervention ◽  
Single Nucleotide Polymorphisms ◽  
Snp Genotyping ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Fully Integrated ◽  
Hereditary Hearing Loss

Hereditary hearing loss is one of the most common human neurosensory disorder, and there is a great need for early intervention methods such as genetically screening newborns. Single nucleotide polymorphisms...

scholarly journals Single Nucleotide Polymorphisms of theGJB2andGJB6Genes Are Associated with Autosomal Recessive Nonsyndromic Hearing Loss

2015 ◽  
Vol 2015 ◽  
pp. 1-8 ◽  
Author(s):  
Ana Paula Grillo ◽  
Flávia Marcorin de Oliveira ◽  
Gabriela Queila de Carvalho ◽  
Ruan Felipe Vieira Medrano ◽  
Sueli Matilde da Silva-Costa ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Single Nucleotide Polymorphisms ◽  
Autosomal Recessive ◽  
Nucleotide Polymorphisms ◽  
Nonsyndromic Hearing Loss ◽  
Single Nucleotide ◽  
Specific Pcr ◽  
Sequence Variations ◽  
Allele Specific ◽  
Allele Specific Pcr

Single nucleotide polymorphisms (SNPs) are important markers in many studies that link DNA sequence variations to phenotypic changes; such studies are expected to advance the understanding of human physiology and elucidate the molecular basis of diseases. TheDFNB1locus, which contains theGJB2andGJB6genes, plays a key role in nonsyndromic hearing loss. Previous studies have identified important mutations in this locus, but the contribution of SNPs in the genes has not yet been much investigated. The aim of this study was to investigate the association of nine polymorphisms located within theDFNB1locus with the occurrence of autosomal recessive nonsyndromic hearing loss (ARNSHL). The SNPs rs3751385 (C/T), rs7994748 (C/T), rs7329857 (C/T), rs7987302 (G/A), rs7322538 (G/A), rs9315400 (C/T), rs877098 (C/T), rs945369 (A/C), and rs7333214 (T/G) were genotyped in 122 deaf patients and 132 healthy controls using allele-specific PCR. There were statistically significant differences between patients and controls, in terms of allelic frequencies in the SNPs rs3751385, rs7994748, rs7329857, rs7987302, rs945369, and rs7333214 (P<0.05). No significant differences between the two groups were observed for rs7322538, rs9315400, and rs877098. Our results suggest that SNPs present in theGJB2andGJB6genes may have an influence on ARNSHL in humans.

Bioinformatics analysis of candidate genes and mutations in a congenital sensorineural hearing loss pedigree: detection of 52 genes for the DFNA52 locus

2008 ◽  
Vol 122 (10) ◽  
pp. 1029-1036 ◽  
Author(s):  
Pan Qiong ◽  
Z Hu ◽  
Y Feng ◽  
Q Pan ◽  
J Xia ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Single Nucleotide Polymorphisms ◽  
Sensorineural Hearing Loss ◽  
Candidate Genes ◽  
Splice Site ◽  
Bioinformatics Analysis ◽  
Sensorineural Hearing ◽  
Disease Genes ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide

AbstractObjective:Previously, we have mapped the DFNA52 (Online Mendelian Inheritance in Man (OMIM) 607683) locus, using an 8.8-cM interval on the human chromosome 5q31.1-q32, in a large, consanguineous Chinese family with congenital sensorineural hearing loss. In order to identify the responsible pathogenic mutation within the DFNA52 locus, we set out to identify candidate disease genes within that region and to sequentially analyse these candidate genes.Methods:Using bioinformatics analysis, 52 candidate disease genes were identified based on gene expression data, deafness phenotype, and findings from a mouse model and from the literature (including two mouse deafness genes NEUROG1 and SMAD5). Mutation detection was performed for the 52 candidate genes, in patients from the pedigree.Results:In these patients, we found no disease-causing mutations in the coding and splice site regions of these genes, which segregated with the disease. However, 108 single nucleotide polymorphisms were identified, of which 15 were novel. Eleven of these 108 single nucleotide polymorphisms altered the encoded amino acid.Conclusions:Although we identified a number of nucleotide changes in the affected patients, by analysis of coding and splice site regions of the genes, none of these changes are likely to be pathogenic mutations segregating with the disease. The result implies that the genes studied are unlikely to be a cause of DFNA52-linked sensorineural hearing loss.

Development of a simple method for the determination of single nucleotide polymorphisms

2010 ◽  
Vol 34 (8) ◽  
pp. S75-S75
Author(s):  
Weifeng Zhu ◽  
Zhuoqi Liu ◽  
Daya Luo ◽  
Xinyao Wu ◽  
Fusheng Wan
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Nucleotide Polymorphisms ◽  
Simple Method ◽  
Single Nucleotide
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