Kit for detecting Rett syndrome pathogenic gene SNP loci based on next generation sequencing and detection method thereof

A disease-causing gene and next-generation sequencing technology, which is applied in the determination/inspection of microorganisms, biochemical equipment and methods, etc., can solve the problems of cumbersome operation, few samples and sites, and low sensitivity

CN105950774AInactive Publication Date: 2016-09-21JIANGSU YINUOWAN CELL CLINIC CO LTD
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Patent Information

Authority / Receiving Office
CN · China
Current Assignee / Owner
Publication Date
2016-09-21
Estimated Expiration
Not applicable · inactive patent

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Abstract

The invention discloses a kit for detecting Rett syndrome pathogenic gene SNP loci based on next generation sequencing and a detection method thereof and belongs to the field of gene detection. The detection method comprises the following steps: (1) extracting sample DNA; (2) carrying out multiplex PCR reaction on a DNA template; (3) carrying out DNA fragmentation; (4) repairing DNA terminal; (5) carrying out joint connection; (6) purifying a connection product; (7) carrying out PCR enrichment; (8) purifying a PCR product; (9) detecting quality of library; (10) carrying out high-throughput sequencing; and (11) analyzing bioinformatics of sequencing results. The kit is high in detection throughput, strong in sensitivity and specificity, simple and safe to operate; the operation is more fast, accurate and complete; the kit is free of toxic and harmful substances and is free of harm to test workers and the environment.
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Description

technical field

[0001] The invention relates to the field of gene detection, in particular to the detection of Rett syndrome gene mutation sites. Background technique

[0002] Rett syndrome (Rett syndrome, RTT) is an X-linked neurodevelopmental disorder genetic disease, which seriously affects children's psychomotor development, and the incidence rate in girls is 1 / 10000-1 / 15000; Rett syndrome is second only to Trisomy 21 is one of the main causes of sporadic severe mental retardation; the typical clinical features of Rett are: the growth and development of infants are basically normal 6 to 18 months after birth, followed by neurodevelopmental stagnation or regression, loss of Acquired skills (such as hand function, language, etc.), slow growth in head circumference, abnormal breathing, stereotyped hand movements (such as rubbing hands, wringing hands, eating hands, etc.), accompanied by autism-like behaviors; in addition, convulsions Seizures are also one of the common sym...

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Embodiment Construction

[0073] Below in conjunction with accompanying drawing description with regard to specific embodiment, further illustrate the present invention, should understand that these embodiments are only for illustrating the present invention and are not intended to limit the scope of the present invention, after having read the present invention, those skilled in the art will understand each aspect of the present invention The modifications of all equivalent forms all fall within the scope defined by the appended claims of the present application.

[0074] In order to understand the present invention, the present invention will be further described in detail below.

[0075] A kit for detecting SNP sites of Rett syndrome causative genes based on next-generation sequencing, the kit can detect a total of 57 SNP sites of Rett syndrome causative genes MECP2, CDKL5 and FOXG1 at one time,

[0076] Among them, the 24 SNP sites of MECP2: c.98dupA, c.316C>T, c.317G>A, c.378delT, c.397C>T, c.401C...