Set of single nucleotide polymorphism (SNP), biological marker and haplotype block tag single nucleotide polymorphisms (tagSNPs) for diagnosing hyperbilirubinemia

Abstract

The invention relates to a set of single nucleotide polymorphism (SNP), a biological marker and haplotype block tag single nucleotide polymorphisms (tagSNPs) for diagnosing hyperbilirubinemia in the technical field of biology. An SNP locus is one of the fifteen SNP loca shown in a table, and the biological marker is 1A4 intron SNPc.867+101G>T. The set of the SNP, the biological marker and the haplotype block tagSNPs can detect whether an individual has the risk of diseases or not, diagnose specific types of the hyperbilirubinemia suffered by the individual according to difference of the SNP loca of a specific marker, and achieve the purposes of early prediction, early diagnosis, early intervention and early treatment. The biological marker can further be used for developing a diagnostic reagent kit and can be applied to clinical research, analysis and diagnosis.

Description

technical field [0001] The invention relates to a collection of SNPs, biomarkers and haplotype block tagSNPs in the field of biotechnology, in particular to a collection of SNPs, biomarkers and haplotype block tagSNPs for diagnosing hyperbilirubinemia. Background technique [0002] Hyperbilirubinemia refers to a disease in which bilirubin accumulates in the body due to slow metabolism or metabolic disorder in the physiological metabolism process, and is mainly manifested clinically as jaundice symptoms. Hyperbilirubinemia mainly includes three types: Crigler-Najjar I (CN I), Crigler-Najjar II (CN II) and Gilbert syndrome (GS). CN I and CNII are hereditary hyperbilirubinemia that occurs in newborns and infants. The former is often accompanied by bilirubin encephalopathy, and the neurotoxic effect of bilirubin causes pathological damage to brain tissue. Early prevention and treatment can cause sequelae or death, and clinical drug treatment is ineffective. Type I patients have...

AI Technical Summary

Problems solved by technology

[0003] The traditional clinical diagnosis method is to measure the total bilirubin level and indirect bilirubin level of the patient, but due to the influence of various factors such as individual differences, ethnicity, region, gender, feeding mode, etc., the diagnostic standard of jaundice bilirubin concentration is often Not applicable, such as premature infants, low birth weight infants, etc., often lead to disability and death of newborns due to failure to detect and intervene early

It is precisely because the traditional diagnostic methods of hyperbilirubinemia are unstable and uncertain, so it is very important to find and formulate an effective new standard to realize the diagnosis, prediction and prevention of bilirubin metabolism diseases

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