Abstract
The goal of this study was to examine the effectiveness of 6 STR markers application (D21S1435, D21S11, D21S1270, D21S1411, D21S226 and IFNAR) in molecular genetic diagnostics of Down syndrome (DS) and to compare it with cytogenetic method. Testing was performed on 73 children, with the previously cytogenetically confirmed Down syndrome. DNA isolated from the buccal swab was used. Previously mentioned loci located on chromosome 21 were simultaneously amplified using quantitative fluorescence PCR (QF PCR). Using this method, 60 previously cytogenetically diagnosed DS with standard type of trisomy 21 were confirmed. Furthermore, six of eight children with mosaic type of DS were detected. Two false negative results for mosaic type of DS were obtained. Finally, five children with the translocation type of Down syndrome were also confirmed with this molecular test. In conclusion, molecular genetic analysis of STR loci is fast, cheap and simple method that could be used in detection of DS. Regarding possible false results detected for certain number of mosaic types, cytogenetic analysis should be used as a confirmatory test.
Highlights
Down syndrome (DS) is the most common disorder that prevents normal physical and mental development of children
Molecular genetic testing was performed after cytogenetic confirmation of Down syndrome
The expected evidence of the trisomy is the presence of three alleles with the peak ratio : : and two alleles in an approximate peak ratio of : [ ]
Summary
Down syndrome (DS) is the most common disorder that prevents normal physical and mental development of children. The higher incidence of DS is detected within group of children whose mothers were older than at the time of conception [ ]. It occurs as a result of chromosomal aberrations. The of all detected DS types is typical chromosome trisomy , while of detected DS could be described as “partial trisomy”. It is caused by chromosome translocation to another chromosome, usually some of acrocentric type. Karyotyping is based on analysis of numerical and structural changes of all observed chromosomes.
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