Analysis of CAG Repeats in SCA1, SCA2, SCA3, SCA6, SCA7 and DRPLA loci in Spinocerebellar Ataxia Patients and Distribution of CAG Repeats at the SCA1, SCA2 and SCA6 loci in Nine Ethnic Populations of Eastern India.
IR@IICB: CSIR-Indian Institute of Chemical Biology, Kolkata
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| Title |
Analysis of CAG Repeats in SCA1, SCA2, SCA3, SCA6, SCA7
and DRPLA loci in Spinocerebellar Ataxia Patients
and Distribution of CAG Repeats at the SCA1, SCA2 and SCA6 loci in Nine Ethnic Populations of Eastern India.
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| Creator |
Basu, Priyadarshi
Chattopadhyay, Biswanath Gangopadhaya, Prasanta K Mukherjee, Subhas C Sinha, Krishna K Das, Shyamal K Roychoudhury, Susanta Majumder, Partha P Bhattacharyya, Nitai P |
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| Subject |
Molecular & Human Genetics
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| Description |
To identify various subtypes of spinocerebellar
ataxias (SCAs) among 57 unrelated individuals clinically
diagnosed as ataxia patients we analysed the SCA1,
SCA2, SCA3, SCA6, SCA7 and DRPLA loci for expansion
of CAG repeats. We detected CAG repeat expansion
in 6 patients (10.5%) at the SCA1 locus. Ten of the 57 patients
(17.5%) had CAG repeat expansion at the SCA2 locus,
while four had CAG expansion at the SCA3/MJD locus
(7%). At the SCA6 locus there was a single patient
(1.8%) with 21 CAG repeats. We have not detected any
patient with expansion in the SCA7 and DRPLA loci. To
test whether the frequencies of the large normal alleles in
SCA1, SCA2 and SCA6 loci can reflect some light on
prevalence of the subtypes of SCAs we studied the CAG
repeat variation in these loci in nine ethnic sub-populations
of eastern India from which the patients originated.
We report here that the frequency of large normal alleles
(>31 CAG repeats) in SCA1 locus to be 0.211 of 394
chromosomes studied. We also report that the frequency
of large normal alleles (>22 CAG repeats) at the SCA2 locus
is 0.038 while at the SCA6 locus frequency of large
normal alleles (>13 repeats) is 0.032. We discussed our data in light of the distribution of normal alleles and
prevalence of SCAs in the Japanese and white populations.
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| Publisher |
Springer Verlag
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| Date |
2000
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| Type |
Article
PeerReviewed |
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| Format |
application/pdf
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| Identifier |
http://www.eprints.iicb.res.in/830/1/HUMAN_GENETICS_106(_6)_597%2D604;2000[38].pdf
Basu, Priyadarshi and Chattopadhyay, Biswanath and Gangopadhaya, Prasanta K and Mukherjee, Subhas C and Sinha, Krishna K and Das, Shyamal K and Roychoudhury, Susanta and Majumder, Partha P and Bhattacharyya, Nitai P (2000) Analysis of CAG Repeats in SCA1, SCA2, SCA3, SCA6, SCA7 and DRPLA loci in Spinocerebellar Ataxia Patients and Distribution of CAG Repeats at the SCA1, SCA2 and SCA6 loci in Nine Ethnic Populations of Eastern India. Human Genetics, 106 (6). pp. 597-604. |
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| Relation |
http://dx.doi.org/10.1007/s004390000320
http://www.eprints.iicb.res.in/830/ |
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