Inborn eyes organize pathogenic gene pool of defect to add

Inborn eyes organize pathogenic gene pool of defect to add one more member
It is reported ' The red reporter of reporter and king Yao YongLing) Organize flawed or damaged the intersection of house and research and 116 investigation to send out the case of department nearly 10 years to one the intersection of China and inborn eyes, by the seminar that professor and the People's Hospital Professor Yang ZhengLin of Sichuan Province headed of happy today of child, ophthalmology king of Peking University third hospital, found a few days ago 5th in world caused inborn eyes to organize the flawed or damaged new gene - -ABCB6, it is the scientist of our country that finds the pathogenic gene of this disease for the first time too. The relevant thesis of this research is issued on magazine of latest a " human science of heredity in U.S.A. ".

Inborn eyes organize defect because embryo split, it closes completely first inborn eye that places leads to the fact to be unusual at the 6 weeks such as embryo 7 week, shown as autosome dominance or recessive heredity more. This disease will cause nystagmic, many kinds of complications such as new born blood vessel under retinal detachment, retina, thus lead to the fact patient's eyesight drops, even it is blind to cause. Do not have effective therapeutic method yet so far.

It is reported, ABCB6 is following PAX2, PAX6, NKX5-3, SHH4 a pathogenic gene, the newest pathogenic gene found. Research reveals, ABCB6 gene after mutation is not merely unable to keep the eyes organizing the metal ion and stability of internal environment that development need, and unable to finish organizing transmitting the molecule signal needed in normal development to the eyes, so cause the embryo to splits and can not close completely, thus cause the eyes to organize flawed or damaged emergence. Seminar find new mutation type of gene this, dye, hybridize and make gene, strike in situ through immune fluoro except that the intersection of animal and the intersection of model,etc. and method, have done a large number of functions to study to ABCB6 gene of mutation, has further proved that organizes flawed or damaged influence in cross-eye after this gene mutation.

The beautiful introduction to the cloth, should find the pathogenic gene pool of organizing flawed or damaged disease of abundant inborn eyes according to the subject expert, not merely can promote the human understanding that inborn eyes organize flawed or damaged disease, thus reduce the inborn defect through methods such as the antenatal genetic test,etc., can offer the new thinking of research for effective prevention and cure of this disease, lay a theoretical foundation for carrying on gene therapy in the future.



Inborn eyes organize pathogenic gene pool of defect to add one more member