Primer and probe for screening spinal muscular atrophy (SMA) genes and using method of primer and probe

A probe and gene technology, applied in the field of human spinal muscular atrophy (SMA) gene screening, can solve the problems of single cell detection, cumbersome operation steps, and poor repeatability of results
CN103555835AInactive Publication Date: 2014-02-05曾骥孟
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Patent Information

Authority / Receiving Office
CN · China
Patent Type
Applications(China)
Current Assignee / Owner
曾骥孟
Publication Date
2014-02-05
Estimated Expiration
Not applicable · inactive patent

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Abstract

The invention discloses a primer and a probe for screening spinal muscular atrophy (SMA) genes and a using method of the primer and probe, belonging to the technical field of biology. The invention discloses eight combinations of the primer and probe for screening survival motor neuron genes 1 (SMN1), and the primer and probe can be effectively applied to screening the SMN1. Meanwhile, the invention also discloses sixteen groups of combinations of the primer and probe for screening survival motor neuron genes 2 (SMN2), as well as application in fetal SMA gene screening by utilizing the primer and probe for screening the SMN1 and the primer and probe for screening the SMN2. According to the primer and probe provided by the invention, the SMA genotypes of adults and fetuses can be detected at high efficiency.
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Description

technical field

[0001] The invention belongs to the field of biotechnology, and in particular relates to primers, probes and application methods for human spinal muscular atrophy (SMA) gene screening. Background technique

[0002] Spinal muscular atrophy (SMA) is a group of autosomal recessive genetic diseases characterized by degeneration of motor neurons in the anterior horn of the spinal cord. The clinical manifestations are progressive and symmetrical proximal limb and trunk muscles. Weakness, atrophy and paralysis, the incidence rate of newborns is 1 / 6000-1 / 10000, and the incidence rate of gene carriers in the normal population is 1 / 40-1 / 60, ranking second among fatal autosomal recessive genetic diseases , second only to cystic fibrosis.

[0003] According to the age of onset and clinical manifestations, SMA can be divided into four types: (1) Type I SMA (acute type): Onset within 6 months after birth, generalized muscle weakness, hypotonia, children cannot sit and sta...

Claims

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