Application of CRYBB3 gene mutation as marker for diagnosing Marfan syndrome

Abstract

The invention discloses application of CRYBB3 gene mutation as a marker for diagnosing Marfan syndrome. According to the invention, it is discovered for the first time that c.75+1G) A mutation can lead to Marfan syndrome through a secondary sequencing technology. The research result of the invention can be used for screening Marfan syndrome pathogenic gene mutation carriers at an early stage on one hand, providing guidance for prenatal and postnatal care, and on the other hand, can provide molecular diagnosis basis for Marfan syndrome patients.

Description

technical field [0001] The invention belongs to the field of medical diagnosis and relates to the application of CRYBB3 gene mutation as a diagnostic marker for Marfan syndrome. Background technique [0002] Marfan syndrome (Marfan syndrome, MFS) is one of the most common autosomal dominant genetic diseases. It was first described by a French pediatrician in the 18th century, with defects in the three major systems of bone, eye and cardiovascular system as the main features Because the bones are involved, the fingers can be slender and spider-like (toe), so it is also called arachnodactyly. The prevalence rate is 1 / 3000-1 / 5000, and more than 25% of them are Sporadic cases. Sudden rupture of aortic dissection is the main cause of death in MFS patients. Even after surgery and drug treatment, many problems in daily life of Marfan syndrome patients still need to be solved urgently. [0003] Early diagnosis and treatment of MFS is an effective way to reduce the morbidity and mor...

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Problems solved by technology

[0004] However, for some patients without a clear diagnosis, they often show only one or two systemic diseases, and the clinical manifestations cannot meet the current diagnostic criteria for MFS. However, these patients with suspected Marfan syndrome also need genetic testing to help them further diagnose. for early treatment