Multiple relative real-time fluorescent quantitative PCR detection kit for rapidly detecting number of human chromosomes

Abstract

The invention discloses a multiple relative real-time fluorescent quantitative PCR detection kit for rapidly detecting the number of human chromosomes. The kit comprises two reaction tubes of a group A reaction system and a group B reaction system, wherein the group A reaction system comprises two pairs of primers and four Taqman probes which are used for detecting repetitive sequences between chromosomes 21 and 18 and repetitive sequences between chromosomes 13 and 1, and are mainly used for detecting the number of chromosomes 13, 18 and 21; the group B reaction system comprises two pairs of primers and four Taqman probes which are used for detecting repetitive sequences between chromosomes 16 and X and repetitive sequences between chromosomes 1 and Y, and are mainly used for detecting the number of chromosomes X and Y. The kit disclosed by the invention is capable of respectively detecting the number of the chromosomes 13, 18, 21, X and Y simultaneously and independently; the results are accurate and reliable; the kit has high sensitivity and specificity.

Description

technical field [0001] The invention relates to the technical field of medical detection, in particular to a multiple relative real-time fluorescent quantitative PCR detection kit for rapidly detecting the number of human chromosomes. Background technique [0002] Chromosomal diseases are mainly caused by abnormalities in the number or structure of chromosomes. Clinically, they often cause miscarriage, stillbirth, premature death, congenital mental retardation, developmental delay, multiple deformities, and sexual hypoplasia. Clinically, trisomy syndromes of chromosomes 21, 18 and 13 are the most common, and their incidence rates are 1 / 700-1 / 800, 1 / 3500-1 / 8000 and 1 / 4000-1 / 10000, respectively. At present, there is no effective treatment for this kind of chromosomal diseases. Therefore, timely prenatal diagnosis to prevent the birth of children is the main method to prevent the occurrence of chromosomal diseases. [0003] Amniotic fluid cell culture and chromosome karyotype ...

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Problems solved by technology

However, due to the use of two pairs of primers to amplify different fragments, very small changes in annealing temperature or differences in DNA quality will cause false negative or false positive results, resulting in inaccurate results (Helmy SM, Ismail S, Bassiouni R, et al.Sensitivity of DCSR3 / GAPDH ratio using quantitative real-time PCR in the rapid prenatal diagnosis for down syndrome[J].Fetal DiagnTher,2009,25(2):220-223.)

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