Kit for quickly detecting copy number of alpha-hemoglobin X segment

A hemoglobin and kit technology, applied in the field of medical testing, can solve the problem of not being able to prompt the existence of rare thalassemia alleles, and achieve the effects of ensuring consistency and quantitative accuracy, good specificity, and high sensitivity

Active Publication Date: 2019-09-20
钦州市妇幼保健院
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Problems solved by technology

[0005] Thalassemia detection involves prenatal diagnosis, but routine testing experiments fail to suggest the presence of rare thalassemia alleles

Method used

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  • Kit for quickly detecting copy number of alpha-hemoglobin X segment
  • Kit for quickly detecting copy number of alpha-hemoglobin X segment
  • Kit for quickly detecting copy number of alpha-hemoglobin X segment

Examples

Experimental program
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Effect test

Embodiment 1

[0041] (1), the composition of the kit:

[0042] (1.1) A pair of primers X1X2-F and X1X2-R that can simultaneously amplify the X1 segment and the X2 segment in the α-globin gene cluster:

[0043] X1X2-F: 5'-CCCTCCACACTCACAGTACT-3' (SEQ ID NO: 1);

[0044] X1X2-R: 5'-CAACAATTCAGAGAGGTCCATG-3' (SEQ ID NO: 2);

[0045] (1.2) A fluorescent probe X1-prob that specifically detects the X1 segment:

[0046] X1-prob: 5'6-FAM-CCAGAAGGAAAGCAGTGACAGGGTC-3'BHQ-1 (SEQ ID NO: 3);

[0047] (1.3) A fluorescent probe X2-prob that specifically detects the X2 segment:

[0048] X2-prob: 5'ROX-CCAGAAGAAAAGCGGTGACAGGGTC-3'BHQ-2 (SEQ ID NO: 4);

[0049] (1.4) X1 segment and X2 segment in the α-globin gene cluster:

[0050] The sequence of the X1 segment is: 5'-ccctccacactcacagtactggattgagctttggggagggtggagaggacctgtcactgctttccttctggacatggacctctctgaattgttg-3' (SEQ ID NO: 5);

[0051] The sequence of the X2 segment is: 5'-ccctccacactcacagtactgaattgagctttgggtagggtggagaggacctgtcaccgcttttcttctggacatggac...

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Abstract

The invention discloses a kit for quickly detecting a copy number of an alpha-hemoglobin X segment. The kit is characterized by comprising a pair of primers X1X2-F and X1X2-R, a fluorescent probe X1-prob for specific detection of an X1 segment and a fluorescent probe X2-prob for specific detection of an X2 segment, and the primers X1X2-F and X1X2-R are capable of simultaneously amplifying the X1 segment and the X2 segment in an alpha-globin gene cluster. The kit has advantages that relative quantification can be realized without exogenous reference genes, and high sensitivity, stability, accuracy and specificity in rapid diagnosis of ratio determination of the X1 and X2 segments in the alpha-globin gene cluster are realized.

Description

technical field [0001] The invention relates to the technical field of medical detection, in particular to a kit for rapidly detecting the copy number of the X segment of alpha hemoglobin. Background technique [0002] Thalassemia, referred to as thalassemia, is one of the most common single-gene genetic diseases. Caused by abnormal expression of protein gene clusters. In my country, Guangxi, Guangdong and Hainan are provinces with high incidence of thalassemia, and the incidence rate of α-thalassemia in Guangxi is 15.5%. [0003] The routine detection method of thalassemia gene is to use Gap-PCR analysis-- SEA type,-- THAI Type, -α 3.7 ,-α 4.2 and other common thalassemia genes. In daily research, the inventor team of the present application detected a variety of rare thalassemia alleles, including -α 2.4 ,-α 21.9 Wait. The existing routine method for finding rare thalassemia alleles is to analyze the results of conventional thalassemia genes combined with hemoglob...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6883
CPCC12Q1/6883
Inventor 龙驹翁勋锦范琼瑛孙雷唐维骏庞婉容
Owner 钦州市妇幼保健院
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