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CURRENT METHODS OF PREIMPLANTATION GENETIC DIAGNOSIS IN THE
REPUBLIC OF UZBEKISTAN
G.A.Ixtiyarova
D.SH.Kudratova
Bukhara state medical institute, Bukhara,Uzbekistan.
Tashkent state dentistry institute,Tashkent,Uzbekistan.
https://doi.org/10.5281/zenodo.14799473
Relevance
: Preimplantation genetic diagnosis has existed for more than 20 years,
during which time the range of possibilities of assisted reproductive technologies and the
potential of molecular genetic diagnosis of single cells have significantly expanded.
The study aimed
to
:
To date, preimplantation diagnosis has evolved from an
experimental procedure to a valid and earliest form of prenatal diagnosis, while expanding
the range of indications.
Materials and Methods:
Women of older reproductive age - 35 years and older.
Couples with a history of more than three spontaneous early terminations of pregnancy
(habitual miscarriage). Men with severe disorders of spermatogenesis -
oligoasthenoteratozoospermia, severe oligozoospermia, azoospermia. Couples with repeated
unsuccessful IVF attempts - more than three unsuccessful attempts
Results:
Mitochondrial diseases caused by nuclear DNA mutations are transmitted
according to Mendelian laws, hence the pattern of PGD should be the same as for monogenic
diseases. The inheritance of mitochondrial diseases caused by mtDNA mutations is
complicated by heteroplasmy (genetic heterogeneity of the mitochondrial population),
different levels of heteroplasmy in different oocytes, random distribution of mtDNA molecules
between blastocyst cells, and the fact that the proportion of mutant mtDNA molecules may
vary differently in tissues during the development and life of the organism. This is especially
true when the diagnosis is carried out according to the "transport scheme" - that is, different
stages of IVF with PGD are performed in different medical institutions located in different
cities or even countries. The "transport scheme" is widely used in the Americas and Europe.
This is due to the fact that it is not yet economically viable to maintain expensive equipment
for genetic research and a staff of highly qualified employees in small and medium-sized ART
clinics. Clinical and laboratory departments are connected using special couriers and standard
means of communication (Internet, telephone).
Conclusion:
This has transformed PGD from an experimental procedure to a valid and
earliest form of PD, while expanding the range of indications.
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