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Primer composition, product and method for detecting PKD1 variant single sperm

A primer composition and single sperm technology, applied in biochemical equipment and methods, recombinant DNA technology, microbe determination/testing, etc., can solve problems such as difficult collection of family member samples, insufficient female eggs, etc.

Pending Publication Date: 2021-09-14
PEKING JABREHOO MED TECH CO LTD
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  • Abstract
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  • Claims
  • Application Information

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Problems solved by technology

However, in practical applications, it is difficult for the present invention to collect complete family member samples; the high pathogenicity risk haplotype carried by the man is derived from the new variation of the man's chromosome, rather than being inherited from the man's parents, which increases the detection At the same time, the age of couples undergoing PGT-M is getting older, and the situation of women's insufficient eggs is also a problem that needs to be considered

Method used

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  • Primer composition, product and method for detecting PKD1 variant single sperm
  • Primer composition, product and method for detecting PKD1 variant single sperm
  • Primer composition, product and method for detecting PKD1 variant single sperm

Examples

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Embodiment 1

[0047] 1. Primer composition

[0048] There are 216 pairs of primers (as shown in Table 1), which can specifically amplify the PKD1 gene and the region where closely linked single nucleotide polymorphism (SNP) sites are located within 2 Mb upstream and downstream. The characteristics of the primer are: unique sequence on the target chromosome; position-specific oligonucleotides have the same annealing temperature.

[0049] Table 1: Primers for detection of PKD1 variant single sperm

[0050]

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[0052]

[0053]

[0054]

[0055]

[0056]

[0057]

[0058]

[0059]

[0060]

[0061]

[0062]

[0063]

[0064]

[0065] 2. Test products

[0066] In a specific embodiment, the detection kit includes: (1) reaction reagents for library construction, including: specific binding primers, universal primers, multiplex PCR polymerase, DNA ligase, end repair enzymes, dNTPs, reaction Buffer; (2) Reagents for purifying PCR reaction product...

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Abstract

The invention provides a primer composition, a product and a method for detecting a PKD1 variant single sperm. The primer composition comprises primers capable of specifically amplifying a PKD1 gene and SNP in a 2Mb upstream and downstream range of the PKD1 gene. The primer composition can be used for genetic marking of variant sperms and therefore distinguish high-pathogenicity-risk haplotypes of men.

Description

【Technical field】 [0001] The invention relates to the technical field of embryo transfer detection, in particular to a primer composition, product and method for detecting PKD1 variant single sperm. 【Background technique】 [0002] Monogenic or Mendelian disorders are primarily due to a single genetic variation. There are approximately 10,000 known monogenic disorders, and although individual monogenic disorders are rare, the combined global prevalence of all monogenic disorders at birth is approximately 1%, and they account for almost 20% of childhood mortality. Therefore, couples at increased risk of having a child with a monogenic disorder can mitigate this risk through reproductive selection. Prenatal diagnosis can determine the genetic status of a developing pregnancy, however, patients who learn that their pregnancy is affected often face the difficult decision to terminate the pregnancy. Therefore, these patients may opt for preimplantation genetic testing (PGT). PG...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6883C12N15/11
CPCC12Q1/6883C12Q2600/156
Inventor 曲宁费嘉张丽娜乔国枝
Owner PEKING JABREHOO MED TECH CO LTD
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