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- W320121355 abstract "Uniparental disomy (UPD), an altered mode of Mendelian inheritance, may reveal expression of recessive alleles due to the loss of heterozygosity, as well as imprinted genes. The mechanism causing UPD can be best elucidated in offsprings of individuals at high risk for chromosomal non-disjunction. Such individuals are Familial Mediterranean Fever (FMF) patients, who are routinely treated with the antimitotic agent colchicine, and, therefore, are expected to be at an increased risk for aneuploidy. A dominant mode of inheritance was observed in four FMF offsprings having one parent exhibiting the FMF phenotype (homozygote recessive) while the other was free of the mutant allele (as assumed from his ethnic background). Out of these, two exhibited UPD of chromosome 16, which carries the FMF gene, as judged from four different RFLP markers along this chromosome. Since in both case the UPD was of maternal origin, it is suggested that the colchicine-treated FMF mothers contributed two doses of chromosome 16, presumably due to meiotic non-disjunction, followed by a somatic loss of the paternal chromosome 16 in the embryo. The somatic chromosome loss is also assumed to be caused by the antimitotic drug since the mother continued to receive it during pregnancy. Whether the UPDmore » arises from the colchicine treatment, from the high tendency of chromosome 16 to maternal non-disjunction or from both remains to be elucidated. Our results highlighted the importance of taking UPD into account when counseling individuals who are either treated with antimitotic agents or are carriers of recessive mutant alleles which are mapped to chromosomes prone to aneuploidy.« less" @default.
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- W320121355 date "1994-09-01" @default.
- W320121355 modified "2023-09-27" @default.
- W320121355 title "Uniparental disomy of chromosome 16 in offsprings of Familial Mediterranean Fever (FMF) patients treated with colchicine" @default.
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