scholarly journals CAG repeat instability at SCA2 locus: anchoring CAA interruptions and linked single nucleotide polymorphisms

2001 ◽  
Vol 10 (21) ◽  
pp. 2437-2446 ◽  
Author(s):  
S. Choudhry
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Cag Repeat ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Repeat Instability

scholarly journals Genotyping single nucleotide polymorphisms for allele-selective therapy in Huntington disease

2020 ◽  
Vol 6 (3) ◽  
pp. e430 ◽  
Author(s):  
Daniel O. Claassen ◽  
Jody Corey-Bloom ◽  
E. Ray Dorsey ◽  
Mary Edmondson ◽  
Sandra K. Kostyk ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Huntington Disease ◽  
Prospective Observational Study ◽  
Cag Repeat ◽  
Cag Repeats ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Cag Repeat Expansion ◽  
Long Read ◽  
Selective Therapy

BackgroundThe huntingtin gene (HTT) pathogenic cytosine-adenine-guanine (CAG) repeat expansion responsible for Huntington disease (HD) is phased with single nucleotide polymorphisms (SNPs), providing targets for allele-selective treatments.ObjectiveThis prospective observational study defined the frequency at which rs362307 (SNP1) or rs362331 (SNP2) was found on the same allele with pathogenic CAG expansions.MethodsAcross 7 US sites, 202 individuals with HD provided blood samples that were processed centrally to determine the number and size of CAG repeats, presence and heterozygosity of SNPs, and whether SNPs were present on the mutant HTT allele using long-read sequencing and phasing.ResultsHeterozygosity of SNP1 and/or SNP2 was identified in 146 (72%) individuals. The 2 polymorphisms were associated only with the mHTT allele in 61% (95% high density interval: 55%, 67%) of individuals.ConclusionsThese results are consistent with previous reports and demonstrate the feasibility of genotyping, phasing, and targeting of HTT SNPs for personalized treatment of HD.

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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