Abstract：
:More than 100 mutations have been reported till date in the rhodopsin gene in patients with retinitis pigmentosa. The present study was undertaken to detect the reported rhodopsin gene point mutations in Indian retinitis pigmentosa patients. We looked for presence or absence of codon 345 and 347 mutations in exon 5 of the gene using the technique of allele-specific polymerase chain reaction by designing primers for each mutation. We have examined 100 patients from 76 families irrespective of genetic categories. Surprisingly, in our sample the very widely reported highly frequent mutations of codon 347 (P --> S/A/R/Q/L/T) were absent while the codon 345 mutation V --> M was seen in three cases in one family (autosomal dominant form) and in one sporadic case (total two families). This is the first report on codon 345 and 347 mutation in Indian retinitis pigmentosa subjects.
journal_name
J Genetjournal_title
Journal of geneticsauthors
Dikshit M,Agarwal Rdoi
10.1007/BF02728336keywords:
subject
Has Abstractpub_date
2001-08-01 00:00:00pages
111-6issue
2eissn
0022-1333issn
0973-7731journal_volume
80pub_type
杂志文章abstract：:The application of DNA intercalator 9-aminoacridine allowed us to increase the resolution of chromosome C-banding and DAPI-banding patterns and to investigate chromosomal polymorphism in karyotypes of seven spring and six winter rape varieties. It was shown that the pericentromeric and intercalary C-bands of most of t...
journal_title：Journal of genetics
pub_type： 杂志文章
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journal_title：Journal of genetics
pub_type： 杂志文章,meta分析,评审
doi：
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journal_title：Journal of genetics
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doi：10.1007/s12041-009-0030-1
更新日期：2009-08-01 00:00:00
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journal_title：Journal of genetics
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journal_title：Journal of genetics
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doi：10.1007/s12041-015-0590-1
更新日期：2015-12-01 00:00:00
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journal_title：Journal of genetics
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doi：10.1007/s12041-014-0444-2
更新日期：2014-12-01 00:00:00
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journal_title：Journal of genetics
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doi：10.1007/s12041-013-0313-4
更新日期：2013-12-01 00:00:00
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journal_title：Journal of genetics
pub_type： 杂志文章
doi：10.1007/s12041-014-0383-y
更新日期：2014-08-01 00:00:00
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更新日期：2009-04-01 00:00:00
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pub_type： 杂志文章
doi：10.1007/BF02811414
更新日期：2001-04-01 00:00:00
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journal_title：Journal of genetics
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doi：
更新日期：2020-01-01 00:00:00
