ATP7B (ATPase Cu2+transporting beta polypeptide) gene mutation detection primer set and kit, ATP7B gene mutation detection method and uses of ATP7B gene mutation detection primer kit

Abstract

The invention relates to the field of biology and especially relates to an ATP7B (ATPase Cu2+transporting beta polypeptide) gene mutation detection primer set and kit, an ATP7B gene mutation detection method and uses of the ATP7B gene mutation detection primer kit. The primer set relates to the most area of the ATP7B gene, comprises an exon and an intron, acquires complete ATP7B gene nucleotide sequence cases and determines a mutation site. The primer set aims at long fragment amplification, a single stripe can be obtained through amplification under appropriate conditions, and a nonspecific stripe is not produced. The amplified fragment is long so that compared with the short fragment amplification method, the long fragment amplification method produces a uniform sequencing result and data analysis is simpler.

Description

technical field [0001] This application relates to the field of molecular biology, in particular to a primer set for detecting ATP7B gene mutations, a kit, a detection method and applications thereof. Background technique [0002] Hepatolenticular degeneration, also known as Wilson Disease (WD), is a severe autosomal recessive disorder of copper metabolism with different ages of onset and different clinical phenotypes. According to foreign epidemiological survey data, the prevalence rate is 1.5-3.0 / 100,000, and the gene frequency is 0.3-0.7%. The carrier rate in the Chinese Han population is 1 / 50. The most common clinical manifestations of hepatolenticular degeneration are liver cirrhosis, neurological symptoms, and psychiatric symptoms. Hepatolenticular degeneration is mainly diagnosed through clinical manifestations such as liver and / or nervous system symptoms, family history, corneal pigment ring, biochemical examination including detection of serum ceruloplasmin, 24-ho...

AI Technical Summary

Problems solved by technology

However, due to the diversity of clinical manifestations of the disease, it is easy to misdiagnose and miss the best treatment time, causing different degrees of irreversible damage to patients.

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