To the question of the preconception expanded carrier screening of hereditary diseases: the case of the rare mutation detection in donor of ovum and recipients
Abstract
The article presents a unique case of detection of a rare mutation both in the donor and recipient of sex cells. The article contains information on molecular genetic approaches to the preconception expanded carrier screening. The medical technology «Detection system for frequent mutation of the PROP1 gene responsible for the combined deficiency of pituitary hormones» was using for population frequency of the mutation c.301_302delAG (p.S101fsX) of the PROP1 gene detection. It was found that the allelic frequency of this deletion is 0.4, the estimated carrier frequency of autosomal recessive hormone deficiency is 1.6% ± 0.13, and the estimated frequency of the disease is 1 per 16 000.
About the Authors
O. A. Shchagina
Research Centre for Medical Genetics
Russian Federation
Russian Federation
A. V. Polyakov
Research Centre for Medical Genetics
Russian Federation
Russian Federation
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Review
For citations:
Shchagina O.A., Polyakov A.V. To the question of the preconception expanded carrier screening of hereditary diseases: the case of the rare mutation detection in donor of ovum and recipients. Medical Genetics. 2017;16(4):19-23. (In Russ.)
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