Pob ntseg yog ib qho tseem ceeb receptor nyob rau hauv tib neeg lub cev, uas plays lub luag hauj lwm nyob rau hauv kev tswj auditory kev nkag siab thiab lub cev sib npaug.Kev hnov lus tsis zoo yog hais txog cov organic lossis kev ua haujlwm txawv txav ntawm lub suab kis tau tus mob, lub suab hnov, thiab cov chaw hnov txog txhua qib hauv qhov kev hnov lus, ua rau muaj kev sib txawv ntawm qhov tsis hnov lus.Raws li cov ntaub ntawv cuam tshuam, muaj ze li ntawm 27.8 lab tus tib neeg uas tsis hnov lus thiab hais lus tsis zoo nyob hauv Suav teb, ntawm cov menyuam yug tshiab yog pab pawg neeg tseem ceeb, thiab tsawg kawg 20,000 tus menyuam mos yug tshiab raug kev txom nyem tsis hnov lus txhua xyoo.
Menyuam Yaus yog lub sijhawm tseem ceeb rau menyuam kev hnov lus thiab kev hais lus.Yog tias nws nyuaj kom tau txais cov suab nrov nrov hauv lub sijhawm no, nws yuav ua rau kev hais lus tsis tiav thiab ua rau tsis zoo rau kev loj hlob ntawm cov menyuam yaus.
1. Qhov tseem ceeb ntawm kev tshuaj ntsuam genetic rau kev lag ntseg
Tam sim no, kev hnov lus tsis zoo yog ib qho kev tsis sib haum xeeb thaum yug los, nyob rau qib thib ib ntawm tsib qhov kev tsis taus (kev tsis hnov lus, kev tsis pom kev, kev tsis pom kev, lub cev tsis taus, kev tsis taus, thiab kev puas hlwb).Raws li kev txheeb cais tsis tiav, muaj kwv yees li 2 txog 3 tus menyuam lag ntseg hauv txhua 1,000 tus menyuam yug tshiab hauv Suav teb, thiab qhov tshwm sim tsis hnov lus hauv cov menyuam yug tshiab yog 2 mus rau 3%, uas yog ntau dua qhov tshwm sim ntawm lwm yam kab mob hauv cov menyuam mos.Kwv yees li 60% ntawm qhov hnov lus tsis hnov lus yog tshwm sim los ntawm cov noob lag ntseg lag ntseg, thiab lag ntseg lag ntseg hloov pauv tau pom hauv 70-80% ntawm cov neeg lag ntseg lag ntseg.
Yog li ntawd, kev tshuaj ntsuam genetic tshuaj rau kev lag ntseg yog suav nrog hauv cov kev kuaj xyuas ua ntej yug menyuam.Kev tiv thaiv thawj zaug ntawm kev lag ntseg lag ntseg tuaj yeem pom tau los ntawm kev tshuaj ntsuam xyuas ua ntej ntawm cov noob lag ntseg hauv cov poj niam cev xeeb tub.Txij li cov cab kuj siab (6%) ntawm cov neeg lag ntseg hauv lag ntseg hauv Suav, cov neeg yug menyuam yaus yuav tsum tau kuaj cov neeg lag luam lag luam lag luam lag luam lag ntseg mutation gene ob peb.Cov khub niam txiv uas muaj kev hloov pauv noob neej tuaj yeem tiv thaiv kev lag ntseg los ntawm kev taug qab cov lus qhia thiab kev cuam tshuam.
2. Kev tshuaj ntsuam caj ces yog dab tsi rau kev lag ntseg
Kev ntsuam xyuas caj ces rau kev lag ntseg yog ib qho kev sim ntawm tus neeg lub DNA kom paub seb puas muaj cov noob rau lag ntseg.Yog tias muaj cov tswv cuab uas nqa cov noob lag ntseg hauv tsev neeg, qee qhov kev ntsuas yuav raug coj los tiv thaiv kev yug me nyuam lag ntseg lossis tiv thaiv qhov tshwm sim ntawm kev lag ntseg hauv cov me nyuam mos raws li ntau hom lag ntseg.
3. Cov pej xeem siv tau rau kev soj ntsuam caj ces lag ntseg
-Cov niam txiv ua ntej cev xeeb tub thiab thaum ntxov cev xeeb tub
-Cov menyuam yug tshiab
-Cov neeg mob lag ntseg thiab lawv cov neeg hauv tsev neeg, cov neeg mob phais mob cochlear implants
-Cov neeg siv tshuaj ototoxic (tshwj xeeb yog aminoglycosides) thiab cov neeg uas muaj keeb kwm ntawm tsev neeg cov tshuaj ua rau lag ntseg.
4. Kev daws teeb meem
Macro & Micro-Test tsim kho tag nrho exome (Wes-Plus nrhiav).Piv nrog rau ib txwm ua ntu zus, tag nrho exome sequencing ho txo tus nqi thaum tau txais cov ntaub ntawv keeb kwm ntawm txhua cheeb tsam exonic.Piv nrog rau tag nrho cov genome sequencing, nws tuaj yeem ua rau lub voj voog luv luv thiab txo cov nqi ntawm cov ntaub ntawv txheeb xyuas.Txoj kev no yog tus nqi-zoo thiab feem ntau siv niaj hnub no los qhia txog cov kab mob caj ces.
Qhov zoo
-Kev kuaj pom tau zoo: Ib qho kev sim ib txhij tshuaj ntsuam 20,000+ tib neeg cov noob caj noob ces thiab mitochondrial genomes, uas muaj ntau dua 6,000 kab mob hauv OMIM database, suav nrog SNV, CNV, UPD, dynamic mutations, fusion genes, mitochondrial genome variations.
-High raug: cov txiaj ntsig yog qhov tseeb thiab txhim khu kev qha, thiab thaj chaw kuaj pom muaj ntau dua 99.7%
- Yooj yim: tsis siv neeg tshawb nrhiav thiab tshuaj xyuas, tau txais cov ntawv ceeb toom hauv 25 hnub
Post lub sij hawm: Mar-03-2023