Qhov sib txawv tseem ceeb ntawm kev tshem tawm thiab kev sib tshooj ntawm chromosome yog qhov kev tshem tawm ntawm chromosome ua rau poob ntawm cov khoom siv caj ces thaum sib tshooj ntawm chromosome ua rau nce cov ntawv luam ntawm cov khoom siv caj ces ntxiv.
Chromosomes nqa cov khoom siv caj ces ntawm lub cev. Lawv yog cov xov zoo li cov qauv tsim los ntawm DNA. Lawv muaj nucleotide sequences. Kev hloov pauv lossis hloov kho tuaj yeem tshwm sim rau cov qauv ntawm chromosomes vim muaj ntau yam laj thawj. Cov kev hloov no tuaj yeem ua rau muaj teeb meem hauv kev loj hlob, kev loj hlob, kev ua haujlwm thiab kev muaj sia nyob ntawm lub cev. Cov noob yog ib feem ntawm cov chromosomes. Cov qauv kev hloov pauv hauv chromosomes cuam tshuam cov noob thiab lawv cov kev qhia (ua cov proteins). Qee qhov kev hloov chromosomal cuam tshuam rau tib neeg txoj kev noj qab haus huv, tab sis qee qhov kev hloov pauv tsis tau. Cov txiaj ntsig ntawm kev hloov pauv chromosomal nyob ntawm qhov loj thiab qhov chaw, thiab seb puas muaj cov khoom siv caj ces tau txais lossis ploj. Hom loj ntawm chromosomal rearrangements yog translocation, deletion, duplication thiab inversions.
Kev tshem tawm ntawm Chromosome yog dab tsi?
Kev tshem tawm ntawm chromosome yog hom chromosome rearrangement. Nws tsuas yog qhov poob ntawm ib feem ntawm chromosome caj npab. Chromosomes tuaj yeem tawg los ntawm ob qhov chaw sib txawv. Feem ntau, cov caj npab tawg tsis muaj lub centromere. Yog li, nws tsis rov txuas mus rau chromosome thiab ploj. Raws li qhov tshwm sim, ib feem ntawm cov khoom siv caj ces ploj los ntawm cov genome ntawm cov kab mob. Cov nyhuv ntawm kev tshem tawm yog nyob ntawm qhov loj ntawm ntu poob. Txawm tias ib qho kev tshem tawm me me hauv cov noob tsis ua haujlwm ntawm cov noob.
Daim duab 01: Kev tshem tawm ntawm Chromosome
Nyob hauv tib neeg genome, kev tshem tawm ntawm chromosomes ua rau cov tsos mob tshwj xeeb. Tus kab mob cri du chat yog ib qho mob tshwm sim los ntawm heterozygous deletion ntawm lub ntsis ntawm lub caj npab luv ntawm chromosome 5. Qhov mob no tau txheeb xyuas los ntawm qhov txawv miv zoo li mewing quaj los ntawm cov me nyuam mos. Kev puas hlwb, microencephaly (qhov txawv txav me me lub taub hau) thiab lub ntsej muag zoo li lub hli yog lwm qhov kev tshwm sim phenotypic ntawm tus mob. Prader-Willi Syndrome (PWS) yog lwm tus mob uas tshwm sim vim kev tshem tawm ntawm caj npab ntev ntawm chromosome 15. PWS kuj tseem cuam tshuam nrog kev puas hlwb thiab lub cev tsis xws luag.
Dab tsi yog Duplication of Chromosome?
Dua dua ntawm chromosome yog lwm hom chromosomal rearrangement. Duplication ntawm chromosome tshwm sim thaum ib feem ntawm DNA tshem tawm ntawm chromosome thiab rov txuas mus rau hauv homologous chromosome. Yog li ntawd, ib qho ntxiv ntawm qee thaj tsam chromosome yog tsim nyob rau hauv homologous chromosome. Cov noob nyob rau thaj tsam ntawd muaj tus lej sib txawv. Txij li cov noob ntau npaum li cas sib txawv, nws tuaj yeem cuam tshuam rau phenotype. Cov noob ntxiv tuaj yeem tsim cov protein ntau dhau, ua rau muaj kev loj hlob tsis zoo.
Daim duab 02: Duplication of Chromosome
Nyob rau hauv tib neeg, piv rau qhov tsis xws luag los ntawm kev tshem tawm, qhov hnyav ntawm cov caj ces tsis xws luag yog tsawg dua. Charcot-Marie-Tooth disease type I yog ib hom kab mob caj ces tshwm sim los ntawm chromosomal duplication. Tsis tas li ntawd, Pallister Killian syndrome yog lwm tus mob uas ib feem ntawm chromosome 12 yog duplicated. Drosophila Bar qhov muag mutation kuj yog ib qho teeb meem tshwm sim los ntawm duplication.
Dab tsi yog qhov zoo sib xws ntawm Kev tshem tawm thiab kev sib tshooj ntawm Chromosome?
- Kev tshem tawm thiab theej tawm yog ob yam loj ntawm chromosomal rearrangements.
- Ob qhov kev tshem tawm thiab theej tawm yog qhov hloov pauv tsis sib xws.
- Nyob rau hauv ob hom, ntu ntu ntawm DNA tsis rov txuas nrog tib chromosome.
- Ib ntu loj dhau ntawm DNA tsis tuaj yeem muab tshem tawm lossis luam tawm.
- Txoj cai tswj hwm cov noob tshuav nyiaj li cas siv rau kev tshem tawm lossis theej ntawm chromosomes.
- Qhov loj dua ntu ntawm chromosome deleted lossis duplicated, nws yuav ua rau phenotypic txawv txav.
- Kev tshem tawm thiab luam tawm tuaj yeem tsim los ntawm kev hla tsis raug cai.
- Lawv feem ntau tshwm sim thaum lub sijhawm faib ntawm tes thaum chromosomes sib haum.
Dab tsi yog qhov txawv ntawm Kev Tshem Tawm thiab Kev Sib Tw ntawm Chromosome?
Kev tshem tawm ntawm chromosomes ua rau poob ntawm cov chromosomes thaum kev sib tw ntawm chromosomes ua rau ib qho ntxiv ntawm qee thaj tsam chromosome. Yog li, qhov no yog qhov sib txawv tseem ceeb ntawm kev tshem tawm thiab kev sib tshooj ntawm chromosome. Tsis tas li ntawd, kev tshem tawm tshwm sim thaum ib qho kev sib cais tsis tuaj yeem rov txuas mus rau tib lub chromosome thaum kev sib tshooj tshwm sim thaum cov khoom tawg rov qab mus rau homologous chromosome.
Cov hauv qab no infographic tabulates ntau qhov sib txawv ntawm kev tshem tawm thiab sib npaug ntawm chromosome.
Summary – Deletion vs Duplication of Chromosome
Chromosomal rearrangements tuaj yeem tshwm sim vim kev tshem tawm lossis theej tawm. Hauv kev tshem tawm chromosomal, ib feem ntawm DNA tshem tawm ntawm cov chromosomes thiab tsis rov txuas mus rau tib chromosome. Yog li ntawd, lub detachment ntu poob lawm. Hauv chromosomal duplication, ib feem ntawm DNA tshem tawm ntawm chromosome thiab txuas mus rau homologous chromosome. Ob qho kev tshem tawm thiab kev sib sau ua ke ntawm chromosomes yog qhov tsis sib xws ntawm chromosomal rearrangements. Yog li, qhov no qhia txog qhov sib txawv ntawm kev tshem tawm thiab kev sib tshooj ntawm chromosome.
