Qhov txawv ntawm mosaicism thiab uniparental disomy yog tias mosaicism yog qhov muaj kev sib txawv ntawm cov caj ces hauv cov hlwb hauv tib neeg thaum uniparental disomy yog qhov qub txeeg qub teg ntawm ob homologous chromosomes los ntawm tib niam txiv.
Mosaicism thiab uniparental disomy yog ob hom kab mob uas tshwm sim los ntawm kev ua yuam kev hauv meiosis thiab / lossis mitosis. Lawv tuaj yeem tshwm sim ntawm nws tus kheej lossis ua ke. Yog li, chromosomal mosaicism tuaj yeem cuam tshuam nrog kev tsis sib haum xeeb. Chromosomal mosaicism yog qhov muaj ob lossis ntau dua chromosome ntxiv nyob rau hauv tib tus neeg thaum uniparental disomy yog qhov qub txeeg qub teg ntawm ob homologous chromosomes los ntawm ib leej niam leej txiv.
Mosaicism yog dab tsi?
Mosaicism lossis chromosomal mosaicism yog qhov muaj ob lossis ntau qhov sib txawv chromosome ntxiv rau tib tus neeg uas tsim los ntawm ib lub zygote. Hauv cov lus yooj yooj yim, mosaicism yog qhov xwm txheej uas cov hlwb hauv tib neeg muaj kev sib txawv ntawm caj ces. Mosaicism tuaj yeem yog germline mosaicism lossis somatic mosaicism. Germline mosaicism tshwm sim hauv gametes thaum somatic mosaicism tshwm sim hauv cov hlwb somatic.
Mosaicism yog txuam nrog ntau yam sib txawv ntawm chromosomal abnormalities nrog rau trisomy, monosomy, triploidy, deletions, duplications, rings thiab lwm yam kev hloov kho cov qauv. Feem ntau cov mosaicism yog mosaic aneuploidy. Nws tshwm sim vim cov xwm txheej meiotic lossis los ntawm cov xwm txheej mitotic. Down syndrome, Klinefelter syndrome thiab Turner syndrome yog cov txiaj ntsig ntawm chromosomal mosaicism.
Kev tsis sib haum xeeb yog dab tsi?
Uniparental disomy yog qhov tshwm sim uas ib tus neeg tau txais ob daim ntawv theej ntawm chromosome. Nws kuj tseem tuaj yeem xa mus rau qhov tshwm sim ntawm kev txais ib feem ntawm chromosome los ntawm ib tus niam txiv. Uniparental Disomy yog qhov tshwm sim tsis sib xws uas tshwm sim thaum lub sij hawm kev loj hlob ntawm gametes. Cov txiaj ntsig ntawm kev tsis sib haum xeeb feem ntau yog nyob ntawm qhov qub txeeg qub teg thiab kev qhia ntawm cov noob tshwj xeeb. Qee qhov xwm txheej, kev tsis sib haum xeeb tsis sib xws yuav cuam tshuam rau cov xeeb ntxwv. Yog li ntawd, nws tuaj yeem ua rau muaj kev nthuav tawm ntau dhau ntawm cov noob tshwj xeeb lossis tsis ua haujlwm ntawm cov noob.
Daim duab 01: Kev Tsis Pom Zoo Tsis Pom Zoo
Kev tsis sib haum xeeb tsis sib xws yuav ua rau chromosomal aberrations thiab qee yam kev tsis sib haum xeeb. Qee tus ntawm lawv suav nrog Prader-Willi syndrome thiab Angelman Syndrome. Prader-Willi syndrome yog txuam nrog kev rog rog thiab kev noj zaub mov tsis zoo, thaum Angelman syndrome ua rau muaj kev tsis taus ntawm cov neeg txawj ntse thiab kev hais lus tsis zoo. Txawm li cas los xij, uniparental disomy kuj tseem tuaj yeem ua rau qhov pib mob qog noj ntshav thiab nthuav tawm cov qog. Nov yog ib qho ntawm qhov tsis zoo tshaj plaws ntawm kev tsis sib haum xeeb.
Dab tsi yog qhov zoo sib xws ntawm Mosaicism thiab Uniparental Disomy?
- Mosaicism thiab uniparental disomy yog genetic abnormalities.
- Mosaic aneuploidy thiab uniparental disomy tshwm sim los ntawm cov xwm txheej mitotic lossis meiotic.
- Chromosomal mosaicism tuaj yeem cuam tshuam nrog kev tsis sib haum xeeb.
- Ob leeg muaj lub luag haujlwm rau ntau yam kab mob.
Qhov txawv ntawm Mosaicism thiab Uniparental Disomy yog dab tsi?
Mosaicism yog qhov muaj ob lossis ntau dua karyotypically sib txawv ntawm cov kab hauv tib tus neeg thaum muaj kev tsis sib haum xeeb yog qhov qub txeeg qub teg ntawm ob homologous chromosomes los ntawm ib leej niam leej txiv. Yog li, qhov no yog qhov txawv ntawm mosaicism thiab uniparental disomy.
Ntxiv mus, lwm qhov sib txawv ntawm mosaicism thiab uniparental disomy nyob rau hauv cov nqe lus ntawm cov kab mob cuam tshuam yog tias mosaicism yog txuam nrog Down syndrome, Klinefelter syndrome thiab Turner syndrome, thiab lwm yam, thaum uniparental disomy yog txuam nrog Prader-Willi syndrome thiab Angelman Syndrome..
Summary – Mosaicism vs Uniparental Disomy
Chromosomal mosaicism yog qhov muaj ntau ntawm cov kab ntawm tes nrog cov tshuaj pleev sib txawv hauv tib neeg. Nyob rau hauv sib piv, uniparental disomy yog qhov qub txeeg qub teg ntawm ob homologous chromosomes los ntawm tib niam txiv. Ob qhov kev txawv txav no tshwm sim los ntawm kev ua yuam kev hauv meiosis lossis mitosis. Ob leeg muaj feem cuam tshuam nrog cov xwm txheej sib txawv. Yog li, qhov no qhia txog qhov sib txawv ntawm mosaicism thiab uniparental disomy.
