Medicogenetic examination of married couples included into assisted reproductive technology programs
- Authors: Ikonnikov M.V.1, Glinkina Z.I1, Kuz'michev LN1, Bakharev VA1, Azizova GD1, Mikaelyan VG1, Romanova NV1, Ikonnikov MV1, Glinkina Z.I1, Kuzmichev LN1, Bakharev VA1, Azizova GD1, Mikayelyan VG1, Romanova NV1
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Affiliations:
- Issue: No 2 (2010)
- Pages: 44-48
- Section: Articles
- URL: https://journals.eco-vector.com/0300-9092/article/view/246355
- ID: 246355
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Abstract
Heterozygous carriage of CYP21B gene mutation was found in 41 (38%) of 108 patients.
Of all the detected mutations in the men and women of both groups, the rates of CYP21B gene deletion and duplication were 70.7 and 24.4%, respectively. Mutations of CFTR genes at the AZF locus of chromosome Y in males having abnormal spermogram readings were found in 12.9% of cases. The total rate of 5T allele was 40.5% of the revealed CFTR gene changes. F508del mutation was the second most frequent type. Del sY1192 was the most common microdeletion at the AZF locus of chromosome Y.
Medicogenetic counseling with the interpretation of transmitted information may permit timely measures to prevent the birth of a baby with genetic disorders.
About the authors
Mikhail Vasil'evich Ikonnikov
Email: mikhail.ikonnikov@roche.com
Zh I Glinkina
L N Kuz'michev
V A Bakharev
G D Azizova
V G Mikaelyan
N V Romanova
M V Ikonnikov
Zh I Glinkina
L N Kuzmichev
V A Bakharev
G D Azizova
V G Mikayelyan
N V Romanova
References
- Курило Л. Ф., Дубинская В. П., Остроумова Т. В. и др. // Пробл. репрод. - 1995. - № 3. - С. 33-38.
- Курило Л. Ф. // Мед. генетика. - 2007. - Т. 6, № 10 (64). - С. 41-44.
- Савельева А. П. Структура хромосомной патологии среди пациентов с мужским бесплодием и патозооспермией: Автореф. дис. ... канд. биол. наук. - М., 2002.
- Causio F., Fischetto R., Schonauer L. M. et al. // J. Reprod. Med. - 1999. - Vol. 44, N 10. - P. 859-864.
- Claustres M. // Reprod. Biomed. Online. - 2005. - Vol. 10, N 1. - P. 14-41.
- Durieu I., Bey-Omar F., Rollet J. et al. // Rev. Med. Interne. - 1997. - Vol. 18, N 2. - P. 114-118.
- Jacobs P. A., Melville M., Ratcliffe S. et al. // Ann. Hum. Genet. - 1974. - Vol. 37, N 4. - P. 359-376.
- Jezeguel P. // Mol. Hum. Reprod. - 2000. - Vol. 6, N 12. - P. 1063-1067.
- Nielsen J., Wohlert M. // Hum. Genet. - 1991. - Vol. 87, N 1. - P. 81-83.
- Robert F., Rollet J., Lapray J. F. et al. // Presse Med. - 1999. - Vol. 23, N 28 (3). - P. 116-121.
- Thompson M. Genetics in Medicine. - Philadelphia, 1991. - P. 47-52.