SNP locus for detecting H blood-group variant

A technology of mutation and blood type, applied in the direction of recombinant DNA technology, microbe determination/inspection, DNA/RNA fragments, etc., to achieve the effect of avoiding acute hemolytic transfusion reaction

Active Publication Date: 2018-06-19
QINGDAO BLOOD CENT
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  • Summary
  • Abstract
  • Description
  • Claims
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Problems solved by technology

So far, the Chinese have not detected the Bombay blood type, but there have been relatively many reports of Bombay-like blood types in China. According to data,

Method used

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  • SNP locus for detecting H blood-group variant
  • SNP locus for detecting H blood-group variant
  • SNP locus for detecting H blood-group variant

Examples

Experimental program
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Effect test

Embodiment 1

[0025] Example 1: Detection and confirmation of the mutation site of the gene from the proband of the H blood type FUT1 variant gene

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Abstract

The invention provides an SNP locus for detecting an acute hemolytic transfusion reaction caused by a variant gene FUT1 of an H blood-group system, that is a new GA deletion mutation of 550th base and551th base from an initiation codon of an H-type variant gene encoding region. The invention provides new use of the variant gene FUT1 so as to provide an effective rapid gene diagnosis, gene screening and genetic counseling way for induced acute intravascular hemolytic transfusion reactions; proven by an application effect, the genic SNP locus and detection primers provided by the invention canbe used for effectively carrying out rapid detection on new H blood-group system variant gene mutant sites of peripheral blood and fetal villi or amniotic fluid of patients in clinical.

Description

technical field [0001] The invention belongs to the technical field of gene diagnosis products, and in particular relates to a SNP site for detecting acute hemolytic transfusion reaction caused by variant genes of the H blood group system. Background of the invention [0002] Acute Hemolytic Transfusion Reaction (AHTR) generally occurs within 24 hours after blood transfusion, and is more common immediately after blood transfusion or during blood transfusion. high. The most common is the wrong infusion of ABO blood type, such as type A blood transfusion to type B patients; type A, B, AB type blood transfusion to O type patients and so on. As long as 5-10ml of ABO-incompatible blood is transfused, obvious symptoms will appear; blood transfusion exceeding 200ml will cause serious consequences. Clinically, it often manifests as intravascular hemolysis. Patients with fever, chills, nausea, and back pain, followed by hemoglobinuria, hemoglobinemia, and hypotensive shock, should ...

Claims

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Application Information

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IPC IPC(8): C12Q1/6883C12N15/11
CPCC12Q1/6883C12Q2600/156
Inventor 冯智慧马文慧韩斌朱于莉胡彬
Owner QINGDAO BLOOD CENT
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