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QF-PCR kits for chromosomal aneuploidy detection

STR markers may be employed in the detection of chromosomal aneuploidy during prenatal screening for pregnant women.

For the rapid detection of common aneuploidies at chromosomes 21, 18, 13, X and Y, QF-PCR technology and fragment analysis techniques may be used.

AneuSure consists of 26 markers. The STR markers are distributed across autosomal chromosomes 21, 18 and 13 and sex chromosomes X & Y. The segmental duplication 7X marker is included in the kit for the differentiation of X chromosome monosomy from homozygosity (i.e. it quantifies the chromosome X for more accurate detection of Turner syndrome.

AneuSure® STR Markers STR loci  (short tandem repeat) consist of short and repetitive sequence elements, 3 - 7 base pairs in length. These tandem repeats are well distributed throughout the human genome and are a rich source of highly polymorphic markers which can be detected by PCR using their flanking sequences for primer selection. The STR loci alleles are differentiated by the number of copies of the repeat sequence contained within the amplified region (locus) and can be distinguished from each other using fluorescence detection after electrophoretic separation. AneuSure® markers cover the whole length of 13, 18, 21, X, and Y chromosomes (Table 1). Markers heterozygosity and SNP in their primer sites were tested on several hundred DNA samples.