Do not have pathogenic gene new mutation location of iris

Do not have pathogenic gene new mutation location of iris to clicked and found inbornly
Author: The peak is so sincere the clothing dawn of Li China's rainbow

It is reported the Harbin scientific research personnel of medical university are in latest a research, lock and decode of our country the Northeast have the intersection of iris and pathogenic the intersection of gene and new the intersection of mutation and location order while being inborn for the first time, and verified it is the inborn main reason that is not so pathogenic as iris that the single time of dosage of PAX6 gene is insufficient. This scientific findings are significant to not having pre-natal diagnosis, hereditary consultation and gene therapy of iris disease inbornly, have filled in a blank in this research field of domestic ophthalmology department.

Two years ago, Kazakhstan did not have hereditary family of iris to discover two eyes to cure the original intelligent duckweed of institute's ophthalmology director of sophomore period in the clinic. Among them, live, prolong 16 -year-old boy of Shou County because eyes photophobic and eyesight so bad that the hospital reach, find it has no iris eye illness to suffer from inbornly, and then through checking and finding to the members of its family, there are 4 people that have iris eye illness to suffer from in 3 generations of members and 6 people of its family. Live another same family of Harbin because 7 year old boy photophobic dropping and going to see doctor by eyesight eyes have, the expert finds that there are 2 people that have iris eye illness to suffer from in boy and his family two generations of members and 3 people.

It is a kind of clinical and rare hereditary eyes development disease to have no iris inbornly, charactered by all or some irises are lacked, and unusual with other eye, including nystagmic, such complications as the cataract, glaucoma and concave development of centre are bad, its morbidity is extremely low, about 2/3 do not have iris case to belong to the family inbornly, and have very high showing rate outside, cause the blind rate to account for 30%. Patient's eye pathological change will be aggravated constantly as age increase, not merely cause the high blind rate, also may amalgamate have the intersection of tumour and syndrome, obtuse secreting the intersection of urine and the intersection of reproduction and the intersection of department and unusual or the intersection of cranium and the intersection of facial deformity,etc. and disease intelligence, Wilms of iris. At present, the medical circle has not totally cured the inborn method without iris disease yet.

The research that finish together by original intelligent duckweed,et al., decode of our country the Northeast have the intersection of iris and pathogenic the intersection of PAX6 and the intersection of gene and new the intersection of mutation and location order while being inborn for the first time, and verified it is the inborn main reason that is not so pathogenic as iris that the single time of dosage of PAX6 gene is insufficient.

In location genetic mutation body databases such as human PAX6,etc., there are 257 kinds of to cause inborn PAX6 gene mutation ways without iris, but our country is about there is only an example too inbornly to have some reports of pathogenic gene of iris and locationing, have the Northeast have the intersection of iris and the intersection of house and the intersection of department and pathogenic report of gene while being inborn yet.

Researchers do not have the PAX6 genes of iris family's patient and normal crowd to analyze to the above-mentioned two of the Northeast inbornly, means of cloning and checking order through a large number of molecular biology, molecular genetics experimental technique and T carrier etc., it is dominant genetic disease of an autosome to have no iris to prove inborn, PAX6 gene is the family inborn pathogenic gene which does not have the iris of the Northeast of our country; Increased two pieces of new mutation location to click for location genetic mutation body databases such as human PAX6,etc. at the same time, namely: C.483del9 and IVS10 +1G> A; And verified it is the inborn main reason that is not so pathogenic as iris that the single time of dosage of PAX6 gene is insufficient.

It is reported, this research results have already been issued in publications such as international medical magazine Molecularvision, " magazine of medical science of heredity in China ", " China's ophthalmology magazine ",etc. in succession, and exchange academy at the annual meeting of the 12th Chinese Medical Association ophthalmology department and cause the extensive concern of the domestic scholar, obtain the progress prize in science and technology of Heilongjiang Province of 2008 at the same time.

Do not have pathogenic gene new mutation location of iris to clicked and found inbornly