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...
Saved in:
Published in | Journal of medical genetics Vol. 38; no. 6; p. 392 |
---|---|
Main Authors | , , , , , , , |
Format | Journal Article |
Language | English |
Published |
London
BMJ Publishing Group LTD
01.06.2001
|
Subjects | |
Online Access | Get full text |
Cover
Loading…
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 |