Cov tshuaj niaj hnub tuaj yeem muab rau cov niam txiv yav tom ntej tsis yog tsuas yog txhawm rau txheeb xyuas qhov kev sib deev ntawm tus menyuam thiab pom nws lub ntsej muag, tab sis kuj txiav txim siab ua ntej yam kab mob uas tos lawv cov xeeb ntxwv yav tom ntej. Pab hauv qhov kev tshawb fawb cytogenetic no. Rau nws qhov kev siv, ob peb milliliters ntawm cov ntshav los yog lwm yam kua dej / cov ntaub so ntswg ntawm tus me nyuam hauv plab yog txaus. Tom qab ua tiav cov tshuaj lom neeg thiab kev siv lub cev nrog cov khoom siv, tus kws kho caj ces tuaj yeem muab cov lus teb rau cov lus nug uas txaus siab rau tsev neeg.
Definition
Kev tshawb fawb Cytogenetic yog kev tshawb fawb microbiological ntawm tib neeg cov khoom siv caj ces txhawm rau txhawm rau kuaj cov noob, chromosomal lossis mitochondrial kev hloov pauv, nrog rau cov kab mob oncological. Qhov tseem ceeb ntawm txoj kev tshawb no yog txiav txim los ntawm qhov muaj cov hlwb rau karyotyping thiab kawm txog kev hloov pauv tshwm sim hauv lawv.
Qhov pom ntawm DNA molecule hauv lub cell nucleus txawv heev nyob ntawm theem ntawm lub voj voog ntawm tes. Yuav kom ua tiav qhov kev tshuaj ntsuam, nws yog ib qho tsim nyog uas chromosome conjugation tshwm sim, uas tshwm sim hauv metaphase ntawm meiosis. NtawmNyob rau hauv ib qho piv txwv zoo ntawm cov khoom, txhua chromosome yog pom raws li ob cais chromatids nyob rau hauv nruab nrab ntawm lub cell. Qhov no yog qhov kev xaiv zoo tshaj plaws los ua txoj kev tshawb fawb cytogenetic. Tib neeg karyotype ib txwm muaj 22 khub ntawm autosomes thiab ob chromosomes poj niam txiv neej. Rau cov poj niam nws yog XX, thiab rau txiv neej nws yog XY.
Kev qhia
Kev kuaj mob cytological yog ua tiav thaum muaj cov cim qhia tshwj xeeb los ntawm ob tus niam txiv thiab tus menyuam:
- txiv neej infertility;
- thawj amenorrhea;
- ib txwm nchuav menyuam;
- keeb kwm ntawm kev yug me nyuam;
- muaj cov me nyuam muaj chromosomal txawv txav;
- lub xub ntiag ntawm cov me nyuam nrog malformations;
- ua ntej tus txheej txheem ntawm in vitro fertilization (IVF);- muaj keeb kwm ntawm IVF ua tsis tiav.
Muaj cais qhia rau tus menyuam hauv plab:
- muaj qhov tsis zoo ntawm tus menyuam yug los;
-kev puas hlwb;
- psychomotor retardation;- poj niam txiv neej anomalies.
ntshav thiab pob txha pob txha
Cytogenetic kuaj ntshav thiab pob txha pob txha yog ua los txiav txim siab karyotype, txheeb xyuas qhov muaj nuj nqis thiab qhov tsis zoo hauv cov qauv ntawm chromosomes, thiab paub meej tias mob qog noj ntshav. Cov qe ntshav nrog cov nuclei (leukocytes) tau cog rau hauv qhov nruab nrab ntawm cov khoom noj rau peb hnub, tom qab ntawd cov khoom tsim tau raug kho rau ntawm lub iav swb thiab kuaj xyuas hauv lub tshuab ntsuas. Nyob rau theem no, nws yog ib qho tseem ceeb rau qualitatively stain lub taagcov ntaub ntawv thiab cov theem ntawm kev cob qhia ntawm lub chaw soj nstuam pab uas yuav ua qhov kev kawm.
Rau kev tshuaj xyuas pob txha, tsawg kawg yog nees nkaum lub hlwb yuav tsum tau txais los ntawm kev kuaj ntshav. Kev kuaj cov ntaub ntawv yuav tsum tau ua nyob rau hauv ib lub tsev kho mob nkaus xwb, vim hais tias tus txheej txheem yog mob, thiab ntxiv rau, tsis muaj mob yog tsim nyog los tiv thaiv tus kab mob ntawm qhov chaw puncture.
kuaj fetal
Kev kuaj Cytogenetic ntawm tus menyuam hauv plab yog xaiv los ntawm tus kws kho caj ces tom qab kev sib tham ntawm ob niam txiv. Muaj ntau txoj kev xaiv rau cov khoom siv rau qhov kev tshuaj ntsuam no. Qhov ntxov tshaj plaws yog ib qho biopsy ntawm placenta. Cov qauv ntawm cov khoom siv rau kev kawm cytogenetic ntawm chorion yog nqa tawm transvaginally, nyob rau hauv kev tswj hwm ultrasound. Nrog rau rab koob aspiration, ob peb lub villi ntawm lub neej yav tom ntej placenta raug coj, uas twb muaj DNA ntawm lub embryo. Cov txheej txheem tuaj yeem ua tau los ntawm 10 lub lis piam ntawm cev xeeb tub. Pib txij lub hlis thib peb, amniocentesis raug tso cai. Qhov no yog lub aspiration ntawm amniotic kua, qhov twg muaj fetal epithelial hlwb uas yuav siv tau raws li cov ntaub ntawv rau kev tshawb fawb.
Qhov kev xaiv thib peb yog cordocentesis. Cov txheej txheem no tuaj yeem ua mob rau tus menyuam, yog li cov pov thawj yuav tsum muaj zog txaus. Ib rab koob yog ntxig rau ntawm phab ntsa sab hauv plab mus rau hauv lub zais zis amniotic, uas tom qab ntawd yuav tsum nkag mus rau hauv cov hlab ntsha ntawm txoj hlab ntaws thiab nqa qee cov ntshav. Tag nrho cov txheej txheem yog ua raws li kev tswj hwm ultrasound.
Siv cov txheej txheem no, nws tuaj yeem txiav txim siab monogenic, chromosomal thiab mitochondrial pathologies ntawm tus menyuam hauv plab thiab txiav txim siab kom ncua lossisrho menyuam.
Tumor cell analysis
Molecular cytogenetic kev tshawb fawb ntawm chromosomes ntawm cov qog nqaij hlav cancer yog qhov nyuaj vim lawv cov kev hloov morphological, nrog rau kev pom tsis zoo ntawm cov hlua. Qhov no tuaj yeem yog translocation, deletion, thiab lwm yam. Nyob rau theem tam sim no, hauv situ hybridization (piv txwv li, "hauv situ") yog siv los kawm cov qauv no. Qhov no tso cai rau koj txheeb xyuas qhov chaw ntawm chromosomes hauv txhua DNA lossis RNA molecule. Koj tuaj yeem nrhiav cov cim ntawm lwm yam kab mob hauv txoj kev no. Nws yog ib qho tseem ceeb uas kev tshawb fawb tuaj yeem ua tsis tau tsuas yog hauv metaphase, tab sis kuj tseem nyob rau hauv qhov sib cuam tshuam, uas ua rau cov khoom nce ntxiv.
Qhov teeb meem tseem ceeb yog nyob rau hauv cov cim ntawm cov kab mob oncological, txij li nyob rau hauv txhua rooj plaub nws yog ib qho tsim nyog los npaj ib tus neeg nucleotide ib ntus thiab muab nws ntau ntxiv. Tom qab ntawd, tom qab sib sau ua ke ntawm ib qho txaus ntawm DNA kawm, qhov tseeb hybridization yog nqa tawm. Thaum kawg, koj yuav tsum cais cov cheeb tsam uas tau txheeb xyuas thiab kos cov lus xaus txog cov txiaj ntsig ntawm txoj kev tshawb fawb.
Hom kab mob chromosome
Hnub no, muaj ntau hom kab mob chromosomal:
- monosomy - tsuas muaj ib qho chromosome los ntawm ib khub (Shereshevsky-Turner kab mob);
- trisomy - qhov sib ntxiv ntawm ib qho ntxiv chromosome (superwoman thiab superman cider, Down, Patau, Edwards);
- tshem tawm - tshem tawm ib feem ntawm chromosome (mosaic cov ntaub ntawv ntawm chromosomal pathologies);
- duplication - duplicationib ntu ntawm chromosome caj npab;
- inversion - kev sib hloov ntawm chromosome seem los ntawm ib puas thiab yim caum degrees; - kev hloov pauv - hloov ntawm genome seem ntawm ib chromosome mus rau lwm tus.
Chromosomal structural abnormalities raug xa mus rau lwm tiam neeg thiab tuaj yeem sib sau ua ke, yog li kev pheej hmoo ntawm kev muaj menyuam muaj mob nce ntxiv. Cov ntaub ntawv ntawm cov kev tshawb fawb cytogenetic tau ua tib zoo kawm txog qhov muaj kev puas tsuaj, thiab kev txiav txim siab yog ua los ntawm lub xeev ntawm tag nrho cov kab mob.
kho mob tseem ceeb
Ib lub xovtooj ntawm tes uas tau txais lossis qhov tsis zoo ntawm lub cev tuaj yeem dhau los ua tus thawj ntawm tag nrho cov xeem ntawm cov hlwb uas yuav tsim cov qog lossis dysembryogenesis stigma. Lawv qhov kev tshawb pom raws sijhawm ua rau muaj kev kuaj mob ntxov thiab kev txiav txim siab txog kev kho mob ntxiv. Kev tshawb fawb Cytogenetic tau ua rau ntau tus khub niam txiv uas muaj cov noob tsis zoo los yug me nyuam noj qab haus huv lossis, yog tias qhov no ua tsis tau, xav txog IVF thiab surrogacy.
