A PCR primer, probe and fluorescent quantitative PCR detection method for detecting polydactyly gli3 gene mutation

Abstract

The invention relates to the technical field of human genomic DNA mutation detection, and in particular relates to PCR primers, probes and a fluorescent quantitative PCR detection method for detecting polydactylic GLI3 gene mutation. The PCR primers comprise two primers (one pair) for amplifying a polymorphic site of a GLI3 gene; the probes comprise two probes for detecting the polymorphic site of the GLI3 gene; and each of the probes comprises 13-25 sequences of basic groups, the 5' end has a fluorescent group label, and the 3' end has a MGB group label. The PCR primers are good in specificity, and the probes are good in specificity and sensitive and precise in detection. The fluorescent quantitative PCR detection method can detect the polymorphism of the III type polydactylic GLI3 gene, and is good in accuracy, high in sensitivity, simple in step, convenient in operation and control and high in detection efficiency.

Description

technical field [0001] The invention relates to the technical field of human genome DNA mutation detection, in particular to a PCR primer, a probe and a fluorescent quantitative PCR detection method for detecting polydactyly GLI3 gene mutation. Background technique [0002] Polydactyly (PD) is characterized by one or more extra finger (toe)-like vegetations on the hand / foot, which can appear in the form of single or multiple deformities, and is one of the common congenital malformations in my country. one. According to the data of China Birth Defect Monitoring Network, its incidence has always been in the top three. The incidence reported at home and abroad ranges from 5 / 10,000 to 19 / 10,000, with obvious racial and geographical differences. [0003] From the reported cases so far, we found that PD is often an isolated symptom, and it is rare to be combined with other limb deformities. Although most superfluous fingers have no function or limited function, they seriously af...

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Problems solved by technology

Although most superfluous fingers have no function or limited function, they seriously affect the function and shape of adjacent healthy fingers

On the other hand, because of this, children with PD are often isolated by their peers. In the long run, they tend to develop an introverted inferiority complex, which affects communication with others, and even affects love, work and marriage.

At present, the prenatal diagnosis technology in my country is still immature. Although ultrasonography is non-invasive and fast, the prenatal diagnosis of PD is limited by the resolution of the instrument, the positioning of the cut plane, the posture of the fetus in the uterus, and the level of the ultrasonography personnel. Can reach 60%-70%

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