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One group of primers for detecting FVIII/FIX gene mutations of patient with hemophilia and application of one group of primers

A technology for hemophilia and patients, applied in recombinant DNA technology, microbial determination/examination, biochemical equipment and methods, etc., and can solve problems such as inability to use

Active Publication Date: 2018-07-24
陕西医大血友病研究院
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  • Abstract
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  • Claims
  • Application Information

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Problems solved by technology

Although gene therapy has achieved success in animal experiments, it still cannot be used clinically [9～10]

Method used

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  • One group of primers for detecting FVIII/FIX gene mutations of patient with hemophilia and application of one group of primers
  • One group of primers for detecting FVIII/FIX gene mutations of patient with hemophilia and application of one group of primers
  • One group of primers for detecting FVIII/FIX gene mutations of patient with hemophilia and application of one group of primers

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[0130] 1. Research object

[0131]1) From June 2013 to June 2015, a total of 73 patients with hemophilia were hospitalized, including 69 males and 4 females, with an average age of 16.13 (0.4-83) years. 37 patients (50.68%) had bleeding symptoms, 7 cases of skin and subcutaneous bleeding, 7 cases of oral and nasal cavity bleeding, 6 cases of muscle, joint and abdominal cavity bleeding, 3 cases of intracranial hemorrhage, 1 case of gastrointestinal bleeding and hematuria . In 45 cases (61.64%) of hemophilic arthritis, knee, elbow, ankle, hip, shoulder and toe joint lesions were 65, 23, 21, 7, 2 and 1, totaling 119 joints.

[0132] 2) HA in 52 cases (71.23%), FⅧ:C was 1.94±1.59%. in:

[0133] Congenital hereditary 42 / 52 cases (80.77%), of which, heavy, medium, light were 10 cases, 30 cases, 2 cases, FⅧ:C were 0.69±0.25%, 1.75±0.81%, 7.80±1.13%.

[0134] Congenital non-hereditary 3 / 52 cases (5.77%), among them, heavy, medium and light were 0 cases, 3 cases, 0 cases, FⅧ:C was ...

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Abstract

The invention discloses one group of primers for detecting FVIII / FIX gene mutations of a patient with hemophilia and application of one group of primers. The primers are 8 pairs of F9 primers, 39 pairs of 22 inversion 3 F8 primers and 1 inversion 4 F8 primers, can be used for etiological classification of hemophilia, can be applied to treatment of a non-factor drug to the hemophilia according to etiological classification of the hemophilia and can enable the patient with the hemophilia to change from severe type to a moderate type and a mild type. By adopting the primers, an acquired getter FVIII / FIX:C can be returned mormality; and further verified that the hemophilia etiological classification method provided by the invention is definite and reliable, opens up a new thought and a new wayof preventing hemophilia bleeding and avoiding disability and has an important significance of guiding prenatal and postnatal care and blocking inheritance.

Description

technical field [0001] The invention relates to PCR amplification primers in genetic engineering, especially a set of primers for detecting FⅧ / FIX gene mutations in hemophilia patients, and using the primers to classify the etiology of hemophilia, and targeted according to the classification results Treatment for hemophilia. Background technique [0002] Hemophilia is a group of genetic diseases characterized by three highs (high bleeding rate, high mortality rate, and high disability rate) [1～2] . In the past 20 years, due to the development of molecular biology technology, it has been found that the cause of hemophilia is mainly FⅧ / FⅨ gene mutation [1] , In addition, it was found that a small number of patients had no genetic family history, but the gene mutation of the patient [3] , another 1.5 / 100,000 patients are acquired hemophilia A (Acguired hemophilia A, AHA) [4～5] , but there is still a lack of unified etiological classification criteria for hemophilia, which b...

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6883C12N15/11
CPCC12Q1/6883C12Q2600/112C12Q2600/156
Inventor 刘陕西刘义国
Owner 陕西医大血友病研究院
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