Hydatidiform Mole Genotyping Detection System, Kit and Application

Through the composite amplification system and optimized detection methods, the problems of low sensitivity and misdiagnosis in existing hydatidiform mould diagnosis are solved, and high sensitivity and low cost genotyping detection is achieved, which is suitable for a variety of sample types, especially FFPE specimens.

CN117265101BActive Publication Date: 2025-08-05SUZHOU MICROREAD GENETICS
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Patent Information

Application Number
CN202311386157.8
Authority / Receiving Office
CN · China
Patent Type
Patents(China)
Current Assignee / Owner
Filing Date
2023-10-25
Publication Date
2025-08-05
Estimated Expiration
2043-10-25

AI Technical Summary

Technical Problem

The existing hydatidiform molar diagnosis and typing methods have problems such as low sensitivity, high cost and difficulty in accurately distinguishing partial and complete hydatidiform molars, especially in FFPE specimens that are prone to misdiagnosis.

Method used

A composite amplification system, including 20 pairs of primers, is able to amplify 19 STR sites and one gender site simultaneously, combined with six-color fluorescent labeling and UDG enzymes, and is detected by PCR reaction and capillary electrophoresis. Using a special reaction buffer and enzyme mix, the amplification procedure is optimized to improve sensitivity and accuracy.

Benefits of technology

It realizes that the genotyping map can be accurately obtained when the DNA template is low, with high sensitivity, simple operation, low cost and effective distinction between fetal hydatidiform status. It is suitable for a variety of sample types, including FFPE specimens.

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Abstract

The present invention relates to the field of biotechnology and relates to a hydatidiform mole genetic typing detection system, kit, and application. The composite amplification system includes 20 pairs of primers capable of simultaneously amplifying 20 genomic loci, and the primer sequences for each of the 20 loci are disclosed. The kit incorporates a UDG enzyme anti-contamination system to digest any amplification products containing uracil prior to PCR amplification, thereby preventing product contamination. These loci possess high individual recognition power and high polymorphic information content, enabling effective and accurate detection of STR polymorphisms, detection of maternal and fetal loci typing, and, through comparison, determination of fetal hydatidiform mole status.
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