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A kit for determining the number and position of agg insertions in the cgg repeat sequence of fmr1 gene and its application method

A repeat sequence and kit technology, applied in the field of bioengineering, can solve problems such as uncertainty, and achieve the effects of preventing high-risk pregnancy, improving fertility risks, and reducing morbidity.

Active Publication Date: 2021-12-10
北京华瑞康源生物科技发展有限公司
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

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Problems solved by technology

like image 3 As shown, the three-primer amplification method (TP-PCR) can identify the number of AGGs, but cannot determine which chromosome is located

Method used

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  • A kit for determining the number and position of agg insertions in the cgg repeat sequence of fmr1 gene and its application method
  • A kit for determining the number and position of agg insertions in the cgg repeat sequence of fmr1 gene and its application method
  • A kit for determining the number and position of agg insertions in the cgg repeat sequence of fmr1 gene and its application method

Examples

Experimental program
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Effect test

Embodiment 1

[0046] A kit for determining the number and position of AGG insertions in the CGG repeat sequence of the FMR1 gene, including primers, PCR reaction solution, high-efficiency DNA polymerase for the CGG sequence, FMR1 gene pre-mutation control (quality control), FMR1 Gene normal control substance (quality control substance), ROX marker (specific DNA molecular fragment suitable for capillary electrophoresis) and deionized water.

[0047] The primer group includes an upstream primer F and a downstream primer R that specifically anneal at the AGG place and amplifies a part of the FMR1 gene CGG repeat region, and the sequence of the upstream primer F is CGGCGGCGGCGGCGAA, as shown in SEQ ID NO: 1, and the downstream The sequence of the primer R is ACCAGCTCCTCCATCTTCCTTCAG, as shown in SEQ ID NO: 2, and the 5' end of the downstream primer R is marked with a fluorescent probe.

[0048] The upstream primer is paired with the CGG repeat sequence of the 5' non-coding region of the FMR1 ge...

Embodiment 2

[0070] Such as Figure 4 As shown, the kit described in Example 1 was used to detect the sample. The sample came from a carrier of the FMR1 gene pre-mutation. In this carrier, the number of CGG repeats was 56 / 30. Substituting 153.41 into the formula equals 24.04. This value is equal to the number of CGG repeats after AGG on a longer CGG sequence. It is known that the first AGG appears after at least 9 CGGs, so it can be known that the amplified product at 153.41 comes from the pre-mutant allele (56 CGGs). The higher peak at the front comes from the AGG insertion shared by the two alleles of 56 CGG and 30 CGG, so the signal intensity is about twice that of the latter. It can be seen that there are three AGG insertions in the two FMR1 genes of the female carrier, two of which are located in the pre-mutation allele and one is located in the wild-type allele.

[0071] To sum up, with the help of the above-mentioned technical scheme of the present invention, through specific pri...

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Abstract

The invention discloses a kit for determining the number and position of AGG insertions in the CGG repeat sequence of the FMR1 gene and a method for using the kit. The kit includes a primer group, a PCR reaction solution, a high-efficiency DNA polymerase for the CGG sequence, and a FMR1 gene Pre-mutation control substance, FMR1 gene gray area control substance, FMR1 gene normal type control substance, ROX marker and deionized water. The kit of the present invention can be used to efficiently amplify the CGG repeat sequence at the 5' end of the FMR1 gene, and use capillary electrophoresis to accurately interpret the number and position of the AGG number in the CGG repeat sequence; it can be used to quickly and accurately detect The position of the AGG insertion in the CGG sequence of the FMR1 pre-mutation carrier can more objectively and accurately evaluate the fertility risk of the FMR1 pre-mutation carrier.

Description

technical field [0001] The invention relates to the technical field of bioengineering, in particular to a kit for determining the number and position of AGG insertions in the CGG repeat sequence of the FMR1 gene and its application method. Background technique [0002] Fragile X syndrome (OMIM#30955) is the second most common cause of intellectual disability after Down syndrome, and is also the most common genetic disease that causes intellectual disability in men. The Fragile X Mental Retardation 1 (FMR1) gene located on the long arm of the X chromosome has a CGG triple nucleotide repeat sequence in the 5' non-coding region. With the increase of CGG repetitions, patients may show a series of clinical symptoms. According to clinical symptoms and risk of disease, the American College of Medical Genetics and Genomics (ACMG) divides the CGG repeat sequence into four grades: 1, 6-44 is called non-involved type; 2, 45- 54 is called intermediate type or gray area; 3, 55-200 is c...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12Q1/6883C12Q1/6858
CPCC12Q1/6883C12Q1/6858C12Q2600/156C12Q2531/113C12Q2525/151C12Q2565/125
Inventor 赵立明姜莹玉
Owner 北京华瑞康源生物科技发展有限公司
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