GT_AneuSure

AneuSure

For rapid detection of numerical chromosomal aneuploidies for chromosomes 21, 18, 13, X and Y using QF-PCR technology.

The AneuSure kit is prepared in accordance with allele frequencies and rate of heterozygosity for most populations. This kit consists of 25 STR markers distributed across the autosomal chromosome 21, 18, 13 & sex-chromosome X and Y and a amelogenin sex determination marker. To avoid false positive or false negative results – we choose markers considering lack of CNVs (copy number variations) and SNPs (single nucleotide polymorphisms) at the primer binding site.

Features

  • Easy to use mix
  • Multiplex analysis of 26 loci in one reaction
  • 1 day time from sample to result
  • Accurate detection for Turner syndrom with segmental duplication marker
  • Applicable to variety of DNA source – amniotic fluid (AF), chorionic villus (CVS) and fetal tissue samples

Chromosomal numerical abnormality is termed aneuploidy. In most cases they are resulted due to nondisjunction either at first or second miotic cell division. However, very rarely they are the result of first or later stages of mitotic cell division of the embryo. The later one may result in mosaicism.

Simultaneous analysis of 26 loci circumvent the use of extra kits or markers, though GENETEK has chromosome specific STR markers for chromosome 21, 18 and 13. They can be ordered separately to avoid being charged unnecessarily.

Most cases of aneuploidy are detrimental and either stops the formation of a viable fetus or causes abortion in the early stages of fetal development. It is the most common chromosomal aberration with clinical importance in humans.

It is of high frequency in embryos and exists in 3 to 4% of recognized pregnancies and 1 in 160 live births. The most common chromosomal aneuploidies at birth are related to either of X, Y, 21, 18 and 13 chromosomes. The three later ones and monosomy of X (Turner Syndrome) are of more clinical importance.

The conventional method for the detection of aneuploidy in the fetuses is karyotyping. This method is usually time consuming and laborious.

QF-PCR is a Quantitative Fluorescence-Polymerase Chain Reaction. It is a reliable alternative to karyotyping for the detection of chromosomal aneuploidy. This method is a novel, fast and cost-effective molecular technique for prenatal diagnosis of chromosomes aneuploidies.

It is a PCR- based method using fluorescently labeled primers. DNA extracted from amniotic fluid, chorionic villus samples and blood can be used as the genomic material in this method. In a multiplex assay, several specific STR markers for each chromosome are amplified which their peaks represent the number of chromosomes.

References:

Umberto Nicolini, Faustina Lalatta, Federica Natacci, Cristina Curcio, The-Hung Bui; The introduction of QF-PCR in prenatal diagnosis of fetal aneuploidies: time for reconsideration, Human Reproduction Update, Volume 10, Issue 6, 1 December 2004, Pages 541–548, https://doi.org/10.1093/humupd/dmh046

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