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Distribution of the CAG Triplet Repeat in ATXN1, ATXN3, and CACNA1A Loci in Peruvian Population
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 (LN) alleles at spinocerebellar ataxia-causative genes has been proposed to b...
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Published in: | Cerebellum (London, England) England), 2020-08, Vol.19 (4), p.527-535 |
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Main Authors: | , , , , , , , , , |
Format: | Article |
Language: | English |
Subjects: | |
Citations: | Items that this one cites Items that cite this one |
Online Access: | Get full text |
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Summary: | 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 (LN) alleles at spinocerebellar ataxia-causative genes has been proposed to be associated with disease prevalence. To investigate the allelic distribution of the CAG repeat in
ATXN1
,
ATXN3
, and
CACNA1A
genes in a Peruvian mestizo population and examine their association with the relative frequency of SCA1, MJD/SCA3, and SCA6 across populations. We genotyped 213 healthy mestizo individuals from Northern Lima, Peru, for
ATXN1
,
ATXN3
, and
CACNA1A
using polymerase chain reaction (PCR) and polyacrylamide gel electrophoresis (PAGE). We compared the frequency of LN alleles and relative disease frequency between populations. We also tested 40 samples for CAT repeat interruptions within the CAG tract of
ATXN1
. We found no association between disease frequency and population frequency of LN alleles at
ATXN1
and
ATXN3
. All 40
ATXN1
samples tested for CAT interruptions were positive. Frequency of LN alleles at
CACNA1A
correlates with SCA6 frequency across several populations, but this effect was largely driven by data from a single population. Low frequency of SCA1 and MJD/SCA3 in Peru is not explained by frequency of LN alleles at
ATXN1
and
ATXN3
, respectively. The observed correlation between
CACNA1A
LN alleles and SCA6 frequency requires further assessment. |
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ISSN: | 1473-4222 1473-4230 |
DOI: | 10.1007/s12311-020-01129-3 |