Adrenoleukodystrophy related genetic mutant and its detection reagent

Abstract

The invention discloses an adrenoleukodystrophy related genetic mutant, and a primer, a probe, an antibody and a kit which are used for detecting the mutant. A new mode for detecting the adrenoleukodystrophy is provided in the invention.

Description

technical field [0001] The invention relates to a gene mutation related to adrenoleukodystrophy, primers, probes, antibodies and kits used for detecting the mutation. Background technique [0002] Adrenoleukodystrophy (ALD) is an inherited disease characterized by progressive diffuse leukodystrophy with adrenal insufficiency. X-linked ALD is the most common type, and its clinical manifestations are highly heterogeneous. Children with ALD are only seen in males, with progressive neurological disability, onset before the age of 10, with an average age of onset of 7.2+ / -1.7 years (2.75-10 years), and most of them develop normally before the age of 3, without psychomotor disorders. 86% of the cases first appeared nervous system symptoms, and 85% of them showed insufficient cortisol secretion in response to ACTH stimulation, and there were unexplained nausea, vomiting, dehydration, weakness, skin pigmentation and other manifestations of adrenal cortex hypofunction when asked abo...

AI Technical Summary

Problems solved by technology

When the ABCD1 gene is mutated, the primary sequence of the protein encoded by it may change, so that it cannot function normally, resulting in the accumulation of very long-chain saturated fatty acids in the organs, leading to disease

[0005] At present, there are many centers at home and abroad that can detect the gene mutation of the ABCD1 gene. More than 400 gene mutation types have been found to cause X-linked recessive ALD, but most families have the same special genotype

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