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Distribution of the CAG Triplet Repeat in ATXN1, ATXN3, and CACNA1A Loci in Peruvian Population
(Springer, 2020)
Spinocerebellar ataxia subtypes 1, 3, and 6 (SCA1, MJD/SCA3, and SCA6) are among the most prevalent autosomal dominant cerebellar ataxias worldwide, but their relative frequencies in Peru are low. Frequency of large normal ...
Distribution and Evolution of CTG Repeats at the Myotonin Protein Kinase Gene in Human Populations
(1996)
We have analyzed the CTG repeat length and the neighboring Alu insertion/deletion (+/-) polymorphism in DNA samples from 16 ethnically and geographically diverse human populations to understand the evolutionary dynamics ...
Distribution and Evolution of CTG Repeats at the Myotonin Protein Kinase Gene in Human Populations
(1996)
We have analyzed the CTG repeat length and the neighboring Alu insertion/deletion (+/-) polymorphism in DNA samples from 16 ethnically and geographically diverse human populations to understand the evolutionary dynamics ...
Analysis of the DMPK gene CTG repeat in healthy Brazilians
(Sociedade Brasileira de Genética, 2019)
Non-tandem repeat polymorphisms at microsatellite loci in wine yeast species
(Springer Heidelberg, 2020-05)
Yeast microsatellite loci consist of short tandem-repeated DNA sequences of variable length. The high mutational rate at these loci generates a remarkable repertoire of alleles, useful for strain differentiation and ...
ATXN10 Microsatellite Distribution in a Peruvian Amerindian Population
(Springer, 2019)
Spinocerebellar ataxia type 10 (SCA10) is a repeat expansion disease occurring mostly in Latin America, suggesting that the mutation spread with the peopling of the Americas, or that Amerindian populations, have a higher ...
DRD4 dopamine receptor alleles in Chilean students of different ethnic origin and its relation with the risk for attention deficit/hyperactivity disorder
(SOC MEDICA SANTIAGO, 2012)
Background: Worldwide diversity of alleles of D4 receptor gene (DRD4), linked to attention deficit hyperactivity disorder (ADHD), is mostly the result of length and single nucleotide polymorphisms in a 48-bp tandem repeat ...
Longitudinal increases in somatic mosaicism of the expanded CTG repeat in myotonic dystrophy type 1 are associated with variation in age-at-onset
(2020-06-30)
In myotonic dystrophy type 1 (DM1), somatic mosaicism of the (CTG)n repeat expansion is age-dependent, tissue-specific and expansion-biased. These features contribute toward variation in disease severity and confound ...
Genetic diversity and evolution of the human leptin locus tetranucleotide repeat
(Hum Genet 110; p. 412-417, 2002)
To better understand the evolutionary history
of the gene region containing the multifunctional adipose
tissue hormone leptin, we genotyped 1,957 individuals
from 12 world populations for a highly variable tetranucleo ...