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Method for rapid diagnosis of down syndrome

A technology for rapid diagnosis of Down syndrome, applied in the field of biomedicine, can solve problems such as not being able to meet the needs of prenatal diagnosis, and achieve the effect of time-saving and labor-saving analysis of results

Inactive Publication Date: 2009-07-29
GENERAL HOSPITAL OF TIANJIN MEDICAL UNIV
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Problems solved by technology

Existing cytogenetic methods can no longer meet the growing need for prenatal diagnosis

Method used

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  • Method for rapid diagnosis of down syndrome
  • Method for rapid diagnosis of down syndrome
  • Method for rapid diagnosis of down syndrome

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Embodiment Construction

[0063] The present invention selects 719 cases of Han individuals, including 389 cases of peripheral blood samples, 282 cases of amniotic fluid samples and 48 cases of villi samples. Of the 719 samples, 67 were diagnosed with DS by cytogenetics, and 652 were normal by karyotype analysis.

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Abstract

The invention relates to a method for diagnosing Down syndrome by amplifying D21S1440, D21S11 and PentaD STR loca. In the method, chromosome 21 D21S1440, D21S11 and PentaD STR loca are amplified, sequencing glue detects amplified product, and the purpose of diagnosing Down syndrome is achieved by analyzing band and area of the amplified product. Compared with karyotype analysis, the method in the invention has the following advantages: the method is quick, has high sensitivity and specificity and less material; samples in large quantities can be diagnosed simultaneously, and the interpretation of result saves both time and labor. The method for amplifying STR loca by QF-PCR has the following advantages of quick speed, high precision, automatic feeding and result datamation, and is an ideal tool for prenatal diagnosis of Down syndrome in large scale.

Description

【Technical field】 [0001] The invention relates to the technical field of biomedicine, in particular to a method for diagnosing Down's syndrome by amplifying three STR loci, D21S1440, D21S11 and Penta D, on chromosome 21. 【Background technique】 [0002] Down's syndrome (DS), also known as trisomy 21, is the most common chromosomal disorder in humans. Mainly manifested as mental retardation, often combined with multiple deformities, and basically unable to take care of themselves. About 26,600 children with DS are born in my country every year, with an average of one born every 20 minutes. Each child born with DS will cause an economic burden of hundreds of thousands of yuan to the society. The total cost of treating DS in my country exceeds 2.5 billion yuan per year. . So far, there is no cure for DS in medicine. An effective way to reduce the birth rate of children with DS is prenatal diagnosis. Children with DS were found through prenatal diagnosis, and intervention meas...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/68
Inventor 岳天孚张颖史云芳李晓洲李岩张秀玲王侃孙璐
Owner GENERAL HOSPITAL OF TIANJIN MEDICAL UNIV
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