Probe combination and kit for detecting microdeletion and microrepetition of Y chromosome and application of probe combination and kit

Abstract

The invention relates to the field of chromosome variation detection, in particular to a probe combination and a kit for detecting microdeletion and microrepetition of a Y chromosome and application of the probe combination and the kit, and the probe combination comprises specific probes aiming at 25 detection points (6 basic points and 19 extension points) of the Y chromosome. When the probe combination provided by the invention is adopted for detection, only Y chromosome microdeletion and microrepetition, 25 point locations, variation interval range judgment and related gene judgment are needed to be simultaneously detected aiming at DNA to be detected in the same reaction tube, and a qualitative and quantitative method containing 6 basic point locations and 19 expansion point locations is adopted. The technical means can be applied to various specimens such as semen, peripheral blood, tissues and the like, and the sample size is required to be only 20-50ngDNA (Deoxyribose Nucleic Acid); the method is short in detection time, economical, simple and convenient, capable of reducing manual operation errors, suitable for various types of samples, visual and accurate in structure interpretation and easy to popularize.

Description

technical field [0001] The invention relates to the field of chromosome variation detection, in particular to a probe combination, a kit and an application thereof for detecting Y chromosome microdeletion and microduplication. Background technique [0002] Y chromosome microdeletions are the second most common genetic cause of male spermatogenesis disorders. Associated chromosomal microdeletions are concentrated on three specific regions on the long arm of the Y chromosome (eg, figure 1 shown), respectively AZFa (15.2-13.1Mb), AZFb (22.8-18.5Mb) and AZFc (25.5-23.3Mb), deletions can affect single or multiple subregions, resulting in different clinical phenotypes. Recommended by the European Academy of Andrology (EAA) and the European Molecular Genetics Quality Network (EMQN) as a routine inspection item for men with azoospermia and severe oligospermia, the sY84 and sY86 sites in the AZFa subregion, and the sY127 and sY134 in the AZFb subregion site, as well as the sY254 an...

AI Technical Summary

Problems solved by technology

[0007] In order to solve the problem that the current kits mentioned in the above background technology can only detect the deletion of chromosome segments, but cannot detect segment duplication, the present invention provides a probe combination for detecting micro-deletions and micro-duplications of Y chromosomes, including targeting Yq on Y chromosomes. :AZFa, Yq:AZFb, Yq:AZFc, Yp, between AZFa / b, Yq and Yq:AZFb / c region specific probes for a total of 25 detection points, the specific sequence is as follows:

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