Oculocutaneous albinism type 1 related mutated TYR gene and application thereof to gene diagnosis

Abstract

The invention discloses an oculocutaneous albinism type 1 related mutated TYR gene and application thereof to gene diagnosis. By collection of a 4-generation oculocutaneous albinism type 1 family, a transmission manner of 4-generation oculocutaneous albinism type 1 in the family is an autosomal recessive inheritance manner according to judgment; by reading of documents and online databases, possible pathogenic candidate genes are selected, then a propositus and other members in the family are subjected to PCR (polymerase chain reaction) amplification and Sanger sequencing to determine mutant gene loci, and consequently a TYR pathogenic gene (mutant c.107G) which is a novel pathogenic mutation is discovered. Discovery of the novel TYR pathogenic gene mutation locus enriches a pathogenic gene mutation spectrum, and the novel TYR pathogenic gene mutation locus can be used as a prenatal diagnosis screening locus for oculocutaneous albinism type 1 which is a serious recessive hereditary disease to guide prenatal and postnatal care. By providing of the oculocutaneous albinism type 1 related mutated TYR gene, data support is provided for design of prenatal diagnosis chips, and especially,important significance to prenatal gene diagnosis screening of seriously-harmful rare genetic diseases is achieved.

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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