Abstract:
:New germline mutations in the human retinoblastoma gene are known to arise preferentially on paternally derived chromosomes, but the magnitude of that bias has not been measured. We evaluated 49 cases with a new germline mutation and found that in 40 cases (82%) the mutation arose on the paternally derived allele. We also evaluated 48 cases likely to have a somatic initial mutation; in this group the initial mutation arose on paternal or maternal chromosomes with approximately equal frequency. There was no statistically significant difference in the average age of fathers of children with new paternal germline mutations from the average age of fathers of children with new maternal germline mutations or somatic initial mutations. Combining the data with that from previous reports from other groups, the proportion of new germline mutations arising on a paternally derived allele is 85% (based on 72 cases; 95% confidence interval = 76-93%). This number can be useful in the genetic counseling of some families with retinoblastoma.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Dryja TP,Morrow JF,Rapaport JMdoi
10.1007/s004390050531subject
Has Abstractpub_date
1997-09-01 00:00:00pages
446-9issue
3-4eissn
0340-6717issn
1432-1203journal_volume
100pub_type
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