Video: Dab tsi yog chromosome yog tuberous sclerosis complex pom ntawm?
2024 Tus sau: Michael Samuels | [email protected]. Kawg hloov kho: 2023-12-16 01:44
Kev tshuaj ntsuam genetic
Tuberous Sclerosis Complex yog ib qho teeb meem autosomal tseem ceeb tshwm sim los ntawm kev hloov pauv hauv ib ntawm ob lub noob paub. TSC1 gene is nyob nyob rau chromosome 9q34 thiab TSC2 noob rau chromosome 16 np13
Ib sab ntawm qhov no, yam kev hloov pauv twg yog tuberous sclerosis?
Kev hloov pauv hauv TSC1 lossis TSC2 noob tuaj yeem ua rau tuberous sclerosis nyuaj. Cov noob TSC1 thiab TSC2 muab cov lus qhia rau ua cov protein hamartin thiab tuberin, feem. Hauv cov cell, ob qhov protein no yuav ua haujlwm ua ke los pab tswj kev loj hlob ntawm tes thiab qhov loj me.
Qhov thib ob, dab tsi yog qhov ua rau tuberous sclerosis? Tuberous sclerosis yog ua los ntawm kev hloov pauv (hloov pauv) hauv TSC1 lossis TSC2 noob. Cov noob no tau koom nrog hauv kev tswj hwm kev loj hlob ntawm tes, thiab kev hloov pauv ua rau muaj kev loj hlob tsis muaj kev tswj hwm thiab ntau cov qog nqaij hlav thoob plaws lub cev.
Qhov thib ob, dab tsi yog tubers hauv tuberous sclerosis?
Lub npe tuberous sclerosis los ntawm tus yam ntxwv tub lossis qos yaj ywm zoo li nodules hauv lub hlwb, uas suav nrog hnub nyoog thiab dhau los ua nyuaj lossis sclerotic. Qhov teeb meem-ib zaug paub tias yog epiloia lossis Bourneville tus kab mob-tau pom thawj zaug los ntawm kws kho mob Fabkis ntau dua 100 xyoo dhau los.
Puas yog tuberous sclerosis ntau?
Tuberous sclerosis yog qhov tsis tshua muaj caj ces tsis zoo uas cuam tshuam rau 1 ntawm 6,000 tus menyuam yug tshiab hauv Tebchaws Meskas. Kwv yees li 40, 000 txog 80, 000 tus neeg hauv Tebchaws Meskas muaj tuberous sclerosis . Tus kab mob kis nyob hauv Europe tau kwv yees kwv yees li ntawm 1 hauv 25, 000 txog 1 hauv 11, 300.
Pom zoo:
Dab tsi yog txhais los ntawm qhov muag tsis pom thiab ob qhov muag tsis pom?
Qhov muag tsis pom, lossis ob-qhov muag tsis pom, yog thaum tus neeg mob tsis paub tias lawv tau txais kev kho mob li cas. Lawv tuaj yeem tau txais cov placebo lossis cov tshuaj tiag. Qhov muag tsis pom kuj tseem hais txog kev coj ua ntawm kev khaws lub npe ntawm kev kho mob. Placebos tuaj yeem siv rau qhov muag tsis pom hauv kev txheeb cais
Tus neeg uas pom qhov muag pom pom dab tsi?
Thaum tus me nyuam muaj strabismus, lub qhov muag tsis tsom mus rau tib yam khoom thiab txhua lub qhov muag xa cov duab sib txawv rau lub hlwb. Raws li qhov tshwm sim, lub hlwb yuav pom ob daim duab (ob lub zeem muag) lossis cov khoom zoo li qhov muag tsis pom. Cov menyuam yaus lub hlwb yog qhov ntse tiag tiag, thiab lawv tsis nyiam tau txais ob daim duab sib txawv es tsis yog ib qho
Cov tsos mob thiab cov tsos mob ntawm tuberous sclerosis yog dab tsi?
Txawm hais tias cov cim thiab cov tsos mob tshwj xeeb rau txhua tus neeg uas muaj tuberous sclerosis, lawv tuaj yeem suav nrog: Cov tawv nqaij txawv txav. Qaug dab peg. Kev paub tsis meej. Teeb meem coj cwj pwm. Teeb meem raum. Teeb meem plawv. Teeb meem mob ntsws. Qhov muag txawv txav
Dab tsi yog qhov tseem ceeb ntawm kev pom kev pom?
Kev pom kev pom yog tus txheej txheem ntawm kev nqus qhov uas ib tug pom, teeb tsa nws hauv lub hlwb, thiab ua kom nkag siab ntawm nws. Ib qho piv txwv feem ntau ntawm kev pom kev pom qhov tseem ceeb hauv kev paub kev paub yog nyeem ntawv. Saib ntawm cov lus ntawm phau ntawv thiab muaj peev xwm ua kom nkag siab ntawm zaj dab neeg yog qhov pom kev pom ntawm kev ua haujlwm
Dab tsi yog chromosome cuam tshuam los ntawm Huntington tus kab mob?
HD yog tshwm sim los ntawm caj ces tsis xws luag ntawm chromosome 4. Qhov tsis xws luag ua rau ib feem ntawm DNA tshwm sim ntau zaus tshaj li qhov yuav tsum tau ua. Qhov teeb meem no yog hu ua CAG rov ua dua. Nquag, ntu no ntawm DNA rov ua dua 10 txog 28 zaug