Cytogenetics: nws yog dab tsi, kev sim ua tiav li cas thiab nws yog dab tsi rau

Zoo Siab

• Dab tsi yog nws rau
• Yuav ua li cas nws ua tiav

Kev ntsuam xyuas cytogenetics tsom lub tsom cov xoo hluav taws xob thiab, yog li, txheeb xyuas cov kev hloov chromosomal ntsig txog tus neeg tus yam ntxwv kho mob. Qhov kev ntsuas no tuaj yeem ua rau thaum muaj hnub nyoog li cas, txawm tias lub sijhawm cev xeeb tub los kuaj xyuas seb puas muaj kev hloov pauv hauv tus menyuam.

Cytogenetics pub rau tus kws kho mob thiab tus neeg mob kom muaj kev paub txog ntawm genome, pab tus kws kho mob kom paub txog kev kuaj mob thiab kev kho mob ncaj qha, yog tias tsim nyog. Qhov kev kuaj no tsis tas yuav muaj kev npaj thiab kev sib sau tsis siv sijhawm ntev, txawm li cas los xij yuav siv sijhawm li 3 txog 10 hnub kom raug tso tawm raws li chav kuaj mob.

Dab tsi yog nws rau

Kev soj ntsuam ntawm tib neeg cytogenetics tuaj yeem txheeb xyuas los tshawb txog cov kev hloov pauv chromosomal, ob qho tib si rau menyuam yaus thiab cov laus. Qhov no vim tias nws ntsuas qhov chromosome, uas yog tus qauv tsim los ntawm DNA thiab cov protein uas tau muab faib hauv cov hlwb hauv khub, ua 23 khub. Los ntawm karyogram, uas sib haum rau cov txheej txheem ntawm lub koom haum chromosome raws li nws cov yam ntxwv, uas tau tso tawm raws li kev soj ntsuam, nws muaj peev xwm txheeb xyuas qhov kev hloov hauv cov chromosomes, xws li:

• Cov lej hloov, uas yog tus cwj pwm los ntawm kev nce lossis qis dua ntawm cov keebkwm, xws li muaj dab tsi tshwm sim nyob rau hauv Down syndrome, nyob rau hauv uas muaj peb lub chromosomes 21 tau txheeb xyuas qhov tseeb, nrog tus neeg muaj 47 chromosomes tag nrho;
• Cov qauv hloov pauv, nyob rau hauv uas muaj kev hloov pauv, pauv lossis tshem tawm ib thaj chaw tshwj xeeb ntawm tus chromosome, xws li Cri-du-Chat syndrome, uas yog tus cwj pwm los ntawm kev txiav tawm ntawm cov feem ntawm chromosome 5.

Yog li, nws yuav raug thov kom pab txhawm rau kuaj mob qee yam mob qog nqaij hlav, feem ntau leukemias, thiab cov kab mob caj ces muaj cov yam ntxwv hloov los ntawm kev hloov pauv lossis nce lossis qis rau ntawm tus lej ntawm cov chromosomes, xws li Down syndrome, Patau syndrome thiab Cri-du -Kev, paub tias yog meow syndrome lossis miv quaj.

Yuav ua li cas nws ua tiav

Txoj kev ntsuam xyuas feem ntau yog ua tiav los ntawm cov ntshav ntsuas. Xws li kev kuaj mob hauv cov poj niam cev xeeb tub uas lawv lub hom phiaj yog los ntsuas tus me nyuam cov chromosomes, kua dej amniotic lossis txawm tias ntshav me me tau khaws. Tom qab sau cov khoom siv roj ntsha thiab xa nws mus rau qhov chaw kuaj, lub hlwb yuav mus kuaj yog li ntawd lawv ntau zog thiab tom qab ntawd ib qho kev cuam tshuam ntawm cov xov tooj ntawm tes tau ntxiv, uas ua rau lub chromosome nyob hauv nws daim ntawv qhia ua tau zoo thiab pom zoo tshaj plaws.

Ua raws li lub hom phiaj ntawm qhov kev kuaj mob, cov txheej txheem sib txawv molecular tuaj yeem thov kom tau txais cov ntaub ntawv hais txog tus neeg karyotype, siv ntau tshaj:

• Qhab G: yog cov txheej txheem feem ntau siv hauv cytogenetics thiab muaj daim ntawv thov ntawm zas xim, Giemsa zas xim, kom cia qhov pom kev ntawm cov chromosomes. Cov txheej txheem no tau zoo heev los nrhiav cov lej, feem ntau, thiab cov qauv hloov hauv cov chromosome, yog cov txheej txheem tseem ceeb molecular thov hauv cytogenetics rau kev kuaj mob thiab kev pom zoo ntawm Down syndrome, piv txwv li, uas yog tus cwj pwm los ntawm qhov muaj nyob ntawm tus chromosome ntxiv;
• Cov tswv yim FISH: nws yog cov txheej txheem tshwj xeeb thiab muaj lub siab xav, raug siv ntau dua los pab txhawm rau kuaj mob qog noj ntshav, vim nws tso cai rau kev txheeb xyuas cov kev hloov me me hauv cov keeb kwm caj dab thiab rov tsim dua tshiab, ntxiv rau kuj tseem paub cov kev hloov pauv hauv cov lej hauv lub chromosomes. Txawm hais tias ua tau zoo heev, cov txheej txheem FISH tseem kim dua, vim nws siv DNA probes sau nrog fluorescence, xav tau ib qho khoom siv los ntes cov fluorescence thiab tso cai rau pom kev ntawm chromosomes. Tsis tas li ntawd, muaj ntau cov kev qhia siv tau hauv kev qhia txog molecular biology uas tso cai rau kuaj mob cancer.

Ua raws li daim ntawv thov ntawm cov zas xim lossis daim ntawv lo cov ntawv, cov chromosomes tau txhim tsa raws li qhov loj me, hauv cov khub, khub kawg sib nug tus neeg yog txivneej lossis pojniam, thiab tom qab ntawd piv nrog cov karyogram ib txwm, yog li kuaj xyuas qhov hloov tau.