Molecular cytogenetic analysis of Xq critical regions in premature ovarian failure

Molecular Cytogenetics
Artur BekeVeronika Karcagi

Abstract

One of the frequent reasons for unsuccessful conception is premature ovarian failure/primary ovarian insufficiency (POF/POI) that is defined as the loss of functional follicles below the age of 40 years. Among the genetic causes the most common one involves the X chromosome, as in Turner syndrome, partial X deletion and X-autosome translocations. Here we report a case of a 27-year-old female patient referred to genetic counselling because of premature ovarian failure. The aim of this case study to perform molecular genetic and cytogenetic analyses in order to identify the exact genetic background of the pathogenic phenotype. For premature ovarian failure disease diagnostics we performed the Fragile mental retardation 1 gene analysis using Southern blot technique and Repeat Primed PCR in order to identify the relationship between the Fragile mental retardation 1 gene premutation status and the premature ovarion failure disease. At this early onset, the premature ovarian failure affected patient we detected one normal allele of Fragile mental retardation 1 gene and we couldn't verify the methylated allele, therefore we performed the cytogenetic analyses using G-banding and fluorescent in situ hybridization methods and a high reso...Continue Reading

References

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Citations

Jun 9, 2016·Clinical and Translational Medicine·Wai-Kwan SiuKwok-Yin Chan
Aug 17, 2019·American Journal of Medical Genetics. Part a·Angela E LinClaus H Gravholt
Apr 30, 2021·American Journal of Medical Genetics. Part a·Bianca Pereira FavillaMaria Isabel Melaragno

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Methods Mentioned

BETA
PCR
electrophoresis

Software Mentioned

GeneMapper
NimbleScan
Deva
SignalMap
FMR1AnalysisMacro _

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