Sift, check, carry to born, while being deaf while being

Sift, check, carry to born, while being deaf while being inborn
It is reported ' Chief correspondent Shi JiaQi) Shanghai doctor promote, sift, check after born in moving towards born, while being deaf while being inborn, even before being pregnant. In Xinhua hospital established yesterday, Shanghai Communications University ear scientific deaf disease molecular biology lab of research institute, clinician and researcher start to to sift, consult event while being deaf while being inborn high-risk group already.

Know duckweeds while being 33 -year-old ' Assumed name) Having born a baby before 1 and a half years, unfortunately, the baby suffers from inbornly and deafly. After going through suffering of the agony, duckweed and husband hope to regenerate a totally healthy child dawn, but they are not sure.

After being pregnant again, the duckweed found the ear, nose and throat of Xinhua hospital - neck head of the department of surgery Professor Wu Hao dawn, Wu Hao has introduced the high-risk group who have just started and sifted and checked to her that diagnoses the project. Puncture through the amnion, scientific research personnel fetch to the foetus' genetic sample, find after measuring in a series of laboratory, it is very tall that the baby in the duckweed belly of dawn suffers from inborn and deaf probability. Though is very disappointed, duckweed and husband still choose to suspend gestation dawn.

Inborn deafness has the highest proportion in numerous inborn deformity China of our country, according to the second national disabled person's sample investigation result announced in December of 2006, there are simple deaf diseases patients 20,040,000 now in our country, there are 1- 3 inborn deaf infants in every 1000 neonates, it is deaf that nearly 20,000-60,000 neonates suffer from in various degree when being born in every year.

With the molecular biological swift and violent development of deaf disease in recent ten years, people had illness coming on to pathogenic gene of heredity and molecule of the inborn deaf disease the mechanism has already had more detailed understanding at present, more than 50 deaf genes have already been found, there is genome location of more than 50 deaf genes that is clicked and already found. From the function research results of these known deaf genes, quite a few inborn and deaf already trains of thought of pathogenic mechanism have begun to show, make people see that carry on diagnosing, prevent and therapeutic hope to these inborn deaf diseases from the gene on this basic aspect.

What made researchers happy is, the gene of mutation takes place in the inborn deaf crowd to still belong to more centralizedly, 70- 80% of the proportions are concentrated on 3 genes. If can diagnose the gene mutation early, it will be expected to sift and find the inborn and deaf infant ahead of time, have reached the goal of reducing the inborn and deaf birth, improving the health of the people fundamentally.

Shanghai Communications University the intersection of ear and scientific the intersection of research institute and deaf the intersection of disease and molecular biology lab gene consulted to sift mainly at present " It is not a syndrome deaf type 1 " of autosome recessiveness (abbreviate as DFNB1 deafness) With " water pipe syndrome deafness in the large vestibule " (abbreviate as EVA deafness) . Researcher Yang Tao says, these two kinds of genes have diagnosed the technological application in the world already for 5-6 years, relatively riper.

Wu Hao says, because this sieve checks that starts stage in initial stage of the project is still at, the present range mainly concentrates on the high-risk group. The high-risk group mean, bring up the family with an inborn deaf infant before this, and couple are deaf-mutes or crowds with deaf history of family. "According to the probability of science of heredity, couple if some present mutation in the same genetic location, it is highest to suffer from the inborn and deaf risk in subgeneration. "

It is reported, inborn and deaf crowd's morbidity is 1- 3 at present, 300- 400 example inborn deaf infants were born every year in Shanghai. Every infant only treats and recovers the direct cost and up to 500,000 yuan. "The neonate who Shanghai implements sifts checking the project can only be found early, treated early, improve the result of recovering, but unable to find the clue earlier. " Though the duckweed is very fond of one's own baby dawn, she is still full of regrets.

But project this belong to initial stage still, researcher say, sift, consult, diagnose, must sift, consult strict ethics in the same way while being every, after guaranteeing the abundant rights of being in know of married couple, launch under the voluntary principle. "No matter the antenuptial sieve is checked, or antenatal diagnosis, all have certain false positive rate and false negative rate, it must be extremely prudent that the gene sifts the development that is checked. " Wu Hao says.

In addition, researchers are also carrying on the gene and sifting the optimization research which is checked the method at the same time, expect to popularize in more extensive crowd. At present, the single example gene sifts the expenses checked to exceed 1000 yuan, researchers expect by sifting optimally and is checked and diagnosed, realize it for being convenient cheap, finally.

Inborn and deaf to sift checking and carry it to born