Mutated tyr gene associated with oculocutaneous albinism type 1 and its use in genetic diagnosis

Abstract

The invention discloses a mutated TYR gene related to oculocutaneous albinism type 1 and its application in gene diagnosis. The present invention judges that the disease is transmitted in an autosomal recessive manner by collecting a 4-generation oculocutaneous albinism type 1 pedigree. By reading the literature and online databases, select candidate genes that may cause the disease, and then perform PCR amplification and Sanger sequencing on the proband and other family members to confirm the mutation gene site. Among them, the TYR pathogenic gene mutation c.107G>C was found to be a new pathogenic mutation. The discovery of this new TYR pathogenic gene mutation site enriches the spectrum of pathogenic gene mutations and can be used as a screening site for prenatal diagnosis of oculocutaneous albinism type 1, a serious recessive genetic disease, for the eugenics of the population Excellent education guidance. The proposal of the present invention provides data support for the development of the design of the prenatal diagnostic chip for this mutation type, and is especially important for the prenatal genetic diagnosis screening of serious harm rare genetic diseases.

Description

technical field [0001] The invention relates to a mutated TYR gene related to oculocutaneous albinism type 1, and also relates to the application of the gene in gene diagnosis, and the invention belongs to the technical field of medicine. Background technique [0002] Albinism (ICD-10: E70.301) is a hereditary leukoplakia caused by lack of or synthesis of melanin in the skin and accessory organs due to tyrosinase deficiency or hypofunction. The patient's retina is achromatic, the iris and pupils appear pale pink, and they are sensitive to light. The skin, eyebrows, hair, and other body hair are white or yellowish-white. Albinism is a familial hereditary disease, an autosomal recessive inheritance, and often occurs in people who marry close relatives. Genetic map of albinism: Both parents of the patient carry the albinism gene, and they do not have the disease themselves. If both husband and wife pass on the disease-causing gene they carry to their children at the same tim...

AI Technical Summary

Problems solved by technology

According to the complete loss of tyrosinase activity, OCA1 can be divided into two types: OCA1A and OCA1B, the two are indistinguishable at birth

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