Triallelic Single Nucleotide Polymorphisms and Genotyping Error in Genetic Epidemiology Studies: MDR1 (ABCB1) G2677/T/A as an Example

2007 ◽  
Vol 16 (6) ◽  
pp. 1185-1192 ◽  
Author(s):  
Claudia Hüebner ◽  
Ivonne Petermann ◽  
Brian L. Browning ◽  
Andrew N. Shelling ◽  
Lynnette R. Ferguson
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Genetic Epidemiology ◽  
Genotyping Error ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Epidemiology Studies

Single nucleotide polymorphisms and the future of genetic epidemiology

2000 ◽  
Vol 58 (4) ◽  
pp. 250-264 ◽  
Author(s):  
Nicholas J Schork ◽  
Daniele Fallin ◽  
Jerry S Lanchbury
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Genetic Epidemiology ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
The Future

Large-Scale Zygosity Testing Using Single Nucleotide Polymorphisms

2007 ◽  
Vol 10 (4) ◽  
pp. 604-625 ◽  
Author(s):  
Ulf Hannelius ◽  
Loreana Gherman ◽  
Ville-Veikko Mäkelä ◽  
Astrid Lindstedt ◽  
Marco Zucchelli ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
High Throughput ◽  
High Throughput Screening ◽  
Large Scale ◽  
Tandem Repeats ◽  
Snp Markers ◽  
Quality Data ◽  
Genotyping Error ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide

AbstractA requirement for performing robust genetic and statistical analyses on twins is correctly assigned zygosities. In order to increase the power to detect small risk factors of disease, zygosity testing should also be amenable for high throughput screening. In this study we validate and implement the use of a panel of 50 single nucleotide polymorphisms (SNPs) for reliable high throughput zygosity testing and compare it to a panel of 16 short tandem repeats (STRs). We genotyped both genomic (gDNA) and whole genome amplified DNA (WGA DNA), ending up with 47 SNP and 11 STR markers fulfilling our quality criteria. Out of 99 studied twin pairs, 2 were assigned a different zygosity using SNP and STR data as compared to self reported zygosity in a questionnaire. We also performed a sensitivity analysis based on simulated data where we evaluated the effects of genotyping error, shifts in allele frequencies and missing data on the qualitative zygosity assignments. The frequency of false positives was less than 0.01 when assuming a 1% genotyping error, a decrease of 10% of the observed minor allele frequency compared to the actual values and up to 10 missing markers. The SNP markers were also successfully genotyped on both gDNA and WGA DNA from whole blood, saliva and filter paper. In conclusion, we validate a robust panel of 47 highly multiplexed SNPs that provide reliable and high quality data on a range of different DNA templates.

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

Sex Differences in Childhood Associations between DNA Markers and General Cognitive Ability

2007 ◽  
Vol 28 (3) ◽  
pp. 161-164 ◽  
Author(s):  
Rosalind Arden ◽  
Nicole Harlaar ◽  
Robert Plomin
Keyword(s):  
Sex Differences ◽  
Single Nucleotide Polymorphisms ◽  
Cognitive Ability ◽  
Dna Markers ◽  
Community Sample ◽  
Nucleotide Polymorphisms ◽  
General Cognitive Ability ◽  
Single Nucleotide ◽  
The Difference

Abstract. An association between intelligence at age 7 and a set of five single-nucleotide polymorphisms (SNPs) has been identified and replicated. We used this composite SNP set to investigate whether the associations differ between boys and girls for general cognitive ability at ages 2, 3, 4, 7, 9, and 10 years. In a longitudinal community sample of British twins aged 2-10 (n > 4,000 individuals), we found that the SNP set is more strongly associated with intelligence in males than in females at ages 7, 9, and 10 and the difference is significant at 10. If this finding replicates in other studies, these results will constitute the first evidence of the same autosomal genes acting differently on intelligence in the two sexes.

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