Unit:
Κατεύθυνση Ιατρική Γενετική: Κλινική και Εργαστηριακή ΚατεύθυνσηLibrary of the School of Health Sciences
Author:
Iliopoulou Pavlina
Supervisors info:
Μαρία Τζέτη, Αναπληρώτρια Καθηγήτρια, Ιατρική, ΕΚΠΑ
Ιωάννα Traeger-Συνοδινού, Καθηγήτρια, Ιατρική, ΕΚΠΑ
Ελένη Φρυσίρα, Αναπληρώτρια Καθηγήτρια, Ιατρική, ΕΚΠΑ
Original Title:
Περικεντρική αναστροφή inv(9)(p23q22.3) στον ελληνικό πληθυσμό
Translated title:
Pericentric inversion inv(9)(p23q22.3) in Greek population
Summary:
In the present study, the pericentric inversion of chromosome 9, inv(9)(p23q22.3), which has been observed in individuals with fertility problems in families with no apparent consanguinity, is thoroughly investigated with cytogenetic and molecular methods. So far, the specific inversion has not been described in the literature or the known databases. Heterozygote carriers of pericentric inversions have an increased risk of having offspring with unbalanced karyotype and consequently an abnormal phenotype. Τhey may present with a history of miscarriage or fertility issues. Ιn a total of 4,700 individuals who were tested cytogenetically, 11 were found heterozygote carriers of inv(9)(p23q22.3); this rate corresponds to 0,2% of the total number tested. After the application of the molecular cytogenetic method FISH (FISH: Fluorescence In Situ Hybridization), it was shown that the inversion is identical in all families tested. The possible consanguinity among the people who carry the inversion was studied by STR (Short Tandems Repeats) haplotype analysis. The results showed that the individuals tested must have a common ancestor in whom the inversion first appeared. Therefore, it is a founder effect, also supported by the fact that the majority of the subjects tested originate from a broad geographical region in Northwestern Greece.
Main subject category:
Health Sciences
Keywords:
Pericentric inversion, Subfertility, Founder effect
