Gene detection kit and method for screening SMA genetic diseases

Abstract

The invention relates to a gene detection kit and method for screening SMA genetic diseases. The kit comprises primers and probes for quantitatively detecting the SMA genetic diseases, wherein primersand the probes specifically include an SMN1 Exon7 amplification specific primer pair as shown SEQ ID No. 1-2, an SMN1 Exon7 specific probe as shown in SEQ ID No. 3, an SMN1 Exon8 amplification specific primer pair as shown SEQ ID No. 4-5, an SMN1 Exon8 specific probe as shown in SEQ ID No. 6, the internal reference ALB specific primer pair, as shown in SEQ ID No. 7-8, of SMN1 Exon7, the internalreference ALB specific probe, as shown in SEQ ID No. 9, of the SMN1 Exon7, the internal reference ALB specific primer pair, as shown in SEQ ID No. 7 and SEQ ID No. 10, of SMN1 Exon8, and the internalreference ALB specific probe, as shown in SEQ ID No. 9, of the SMN1 Exon8. The gene detection kit has the advantages that the primers and the fluorescent probes which are high in specificity are designed to prepare the kit which is convenient to use and reliable in detection result, the scientific and reasonable PCR reaction system is designed, and the kit is simple to operate, fast in detection,high in detection sensitivity, good in specificity and the like when being applied to the SMA genetic disease screening of the newborn.

Description

technical field [0001] The invention relates to the technical field of gene screening for genetic diseases, in particular to a gene detection kit and detection method for SMA genetic disease screening. Background technique [0002] Spinal muscular atrophy (SMA) is a group of autosomal recessive neuromuscular diseases characterized by degeneration of the anterior horn cells of the spinal cord, resulting in symmetrical muscle weakness and muscle atrophy. It is a common motor neuron disease. It is characterized by pathological features such as muscle atrophy, low muscle tone, and weakened tendon reflexes. At present, there is no effective treatment. It is the number one genetic killer of infants under two years old. There are no race, gender and age differences in spinal muscular atrophy, the carrier rate is about 1 / 40-1 / 50, and the incidence rate is about 1 / 6000-1 / 10000. [0003] Under normal circumstances, the human body will normally express SMN protein and NAIP protein to ...

AI Technical Summary

Problems solved by technology

Among them, RFLP cannot distinguish heterozygotes; AS-PCR requires gel electrophoresis, the process is complicated and easy to cause pollution; although MLPA is the gold standard, the process is still too cumbersome; and fluorescent quantitative PCR method is simple in process, with less pollution in closed-tube operation, and can For template quantification, the cost is lower, and it is a more cost-effective technique among many methods

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