A unique form of autosomal dominant cataract explained by gene conversion between [beta]-crystallin B2 and its pseudogene

Since the mutation Q155X creates aBfaI restriction enzyme site and the variant 483C->T destroys an MspI site, PCR products were BfaI andMspI (New England Biolabs, Frankfurt, Germany) digested and separated on agarose gels. Gene conversion Altogether these data point to a hot spot of mutation in e...

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Published inJournal of medical genetics Vol. 38; no. 6; p. 392
Main Authors Vanita, Sarhadi, Virinder, Reis, André, Jung, Martin, Singh, Daljit, Sperling, Karl, Singh, Jai Rup, Burger, Joachim
Format Journal Article
LanguageEnglish
Published London BMJ Publishing Group LTD 01.06.2001
Subjects
Cataracts
Chromosomes
Genes
Mutation
Germany
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Summary:Since the mutation Q155X creates aBfaI restriction enzyme site and the variant 483C->T destroys an MspI site, PCR products were BfaI andMspI (New England Biolabs, Frankfurt, Germany) digested and separated on agarose gels. Gene conversion Altogether these data point to a hot spot of mutation in exon 6 of the CRYBB2 gene. Since the two sequence alterations in the Indian family, Q155X and 483C->T, are both cytosine to thymidine mutations, cytosine deamination as the mutational mechanism cannot be ruled out a priori.
ISSN:0022-2593
1468-6244
DOI:10.1136/jmg.38.6.392