Method for detecting hereditary albinism based on Sanger sequencing

The invention provides a method for detecting hereditary albinism based on Sanger sequencing, which comprises the following steps: carrying out whole exon sequencing on a patient by adopting a next-generation sequencing method, screening out two suspicious mutation sites of a TYR gene, carrying out...

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Hauptverfasser: LI WEIHAO, HUANG XIUJING, YE YANCHOU
Format: Patent
Sprache:chi ; eng
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Zusammenfassung:The invention provides a method for detecting hereditary albinism based on Sanger sequencing, which comprises the following steps: carrying out whole exon sequencing on a patient by adopting a next-generation sequencing method, screening out two suspicious mutation sites of a TYR gene, carrying out Sanger sequencing verification on peripheral blood DNA of parents of the patient by adopting a first-generation sequencing technology, and screening out two suspicious mutation sites of the TYR gene by adopting a second-generation sequencing technology. Protein function prediction is carried out by using functional prediction software such as bioinformatics SIFT (scale invariant feature transform), Polyphe-2 and the like, and the method has the beneficial effects that the designed primers are used, a Sanger sequencing method is adopted to carry out detailed TYR gene mutation detection on a family of a case, two mutations are determined as genetic factors of albinism of a patient, and the genetic factors of albinism