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Medicina
Croatian Medical Association - Rijeka branch
ISSN: 0025-7729
Vol. 43, No. 4, 2007, pp. 279-284
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Bioline Code: me07040
Full paper language: Croatian
Document type: Special Article
Document available free of charge
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Medicina, Vol. 43, No. 4, 2007, pp. 279-284
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Genetski Uzroci Neplodnosti
Stipoljev, Feodora
Posljednjih godina došlo je do naglog razvoja
dijagnostičkih metoda kojima se može otkriti genetski
uzrok neplodnosti, a time procijeniti i rizik prijenosa
genetskog poremećaja. Razvojem tehnika potpomognute
oplodnje moguće je liječiti veoma teške oblike
neplodnosti koji nose značajno veći rizik prijenosa
određenih molekularnih promjena na potomstvo. Kod
takvih slučajeva veoma je važno otkriti mutacijsku
promjenu, jer se time pruža mogućnost davanja precizne
genetske informacije o rizicima nasljeđivanja i načina
prenatalnog određivanja genotipa ploda. S obzirom na
to da ne postoje jedinstvene smjernice u pristupu dijagnostike
i liječenja neplodnosti, nastoje se izdvojiti skupine
visokorizičnih neplodnih bolesnika prema njihovim
kliničkim osobitostima koje će biti podvrgnute rutinskim
dijagnostičkim postupcima u svrhu otkrivanja
uzroka neplodnosti. Za određene genske poremećaje,
kao što su cistična fibroza i sindrom fragilnog X, poznata
je uloga u etiopatogenezi neplodnosti. Najnovija
molekularna istraživanja genskih mutacija, posebice u
β-podjedinici FSH i LH gena, pokazuju svoju dijagnostičku
i kliničku vrijednost kod otkrivanja genetskih
uzroka neplodnosti.
neplodnost, genetika, izvantjelesna oplodnja, mutacija
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Genetic Causes Of Infertility
Stipoljev, Feodora
Abstract
During the last few years, there is a rapidly expansion of
new diagnostic techniques improving the detection of
genetic causes of infertility. It is followed by a precise
risk assessment of genetic change transmission and possibility
to chose the most adequate methode of medically
assisted reproduction. The treatment of severe
forms of both male and female infertility became possible
by the development of very sofisticated in vitro fertilising
techniques. Such patients carry the significantly
higher risk of having mutational change in one of the
disease genes involved in regulation of human reproduction.
The detection of mutation in these patients
improve the treatment and prognostic assessment in
potential future pregnancies. The unique guidelines for
the diagnosis and the treatment of infertile couples still
doesn't exist. There are several categories of patients
selected by clinical features and associated with some
forms of genetic abnormalities. For particular genetic
disorders such as cystic fibrosis and fragile X syndrome,
their role in pathogenesis of infertility is very well
known. Every day, new genetic mutations associated
with infertility are discovered. The recent studies involving
investigations of significance of molecular mutations,
particulary in the gene for the β-subunit of FSH
and LH , showed thier diagnostic and clinical value in
evaluation both male and female infertility.
Keywords
infertility, genetics, medically assisted reproduction, mutation
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