Injongo kunye Nezinyathelo ezibandakanyekayo kwi-Karyotype Test
Ukuba ugqirha wakho uphakamise uvavanyo lwekaryotype wena okanye umntwana wakho, okanye emva kwe-amniocentesis, luquka ntoni lo vavanyo? Ziziphi iimeko ezinokuthi i-karyotype ixilonge, ziphi na amanyathelo abandakanyekayo ekwenzeni iimvavanyo, kwaye zithini ukulinganiselwa kwayo?
Uvavanyo lweKaryotype luni?
I-karyotype yifoto ye- chromosomes kwiseli . I-Karyotypes inokuthathwa kwiiseli zegazi, iisel cell skin (ukusuka kumniotic fluid okanye i-placenta), okanye iiseli zomnatha weethambo.
Ziziphi iimeko ezinokuthi zixilongwe kunye novavanyo lweKaryotype?
I-Karyotypes ingasetyenziselwa ukukhusela kunye nokuqinisekisa ukungavumelekanga kwe-chromosomal efana ne-Down's syndrome, kwaye kukho iintlobo ezahlukeneyo ezingaqhelekanga ezinokuthi zifunyenwe.
Enye yale miba yimizimba ekhoyo apho kukho iikopi ezintathu zekromosomes enye kunezinto ezimbini. Ngokwahlukileyo, i-monosomi iyenzeka xa kukho enye ikopi (endaweni yesibini). Ukongeza kwii-trisomi kunye ne-monosomi kukho ukuchithwa kwe-chromosome apho inxalenye ye-chromosome ilahlekile, kunye ne-chromosome translocations, apho inxalenye yecromosome enye iqhotyoshelwe kwenye i-chromosome.
Imizekelo yeengxaki ziquka:
- I-Down syndrome (i-trisomy 21)
- I-Edward syndrome (i- trisomy 18 )
- I-Patau syndrome (i-trisomy 13)
- I-Klinefelter's syndrome (i-XXY kunye nezinye iinguqu) - I- Klinefelter's syndrome ivela kwi-1 kwi-500 yabantwana abesandul 'ukuzalwa kwaye ibonakala iyanda kwimeko
- I-X ye-X syndrome (XXX)
Umzekelo we-monosomy uquka:
- I-Turner syndrome (X0) okanye i-monosomy X - Phantse i-15 ye-miscarriages ngenxa ye-Turner syndrome, kodwa le trisomy ikhoyo kuphela kwi-1 ngo-2000 ngokuzalwa ngokuzalwa
Imizekelo yokuchithwa kwe-chromosomal iquka:
- I-Cri-du-Chat syndrome (i-chromosome engekho 5)
- I-Williams syndrome (i-chromosome engekho 7)
Ukutshintshiselwa - Kukho imizekelo emininzi yokudluliselwa kwendawo kuquka ukufuduswa kwe-Down syndrome. Ukutshintshwa kweRobertsonian kuqhelekileyo, kwenzeka ngo-1 kubantu abayi-1000.
UMoseicism yimeko apho ezinye iiseli zomzimba zinezinto ezingaqhelekanga xa abanye bengenalo. Umzekelo, i-mosaic Down syndrome okanye i-trisomy ye-mosaic 9. I-trisomy epheleleyo 9 ayihambelani nobomi, kodwa i-trisomy 9 ye-mosaic ingakhokelela ekuzalweni okuphilayo.
(Umzekelo ufanele amagama angamawaka. Funda malunga nokwahlukana phakathi kwe-translocation, i-trisomy, kunye nesifo se-Down syndrome .)
Ngaba iKaryotype Yenzani?
Zininzi iimeko apho i-karyotype inganconywa ngugqirha wakho. Ezi ziquka:
- Iintsana okanye abantwana abaneempawu zonyango ezibonisa ukungalingani kwe-chromosomal engakafumaneki.
- Abantu abadala abaneempawu ezibonisa ukungaqheleki kwe-chromosomal (umzekelo, amadoda aphethe isifo sikaKlinefelter angenakufumana unyango ukuya kutshatyalaliswa okanye ukudala.) Ezinye zeengxaki ze-trisomy mosaic nazo zingabonakali.
- Ukungenzi lutho - I-karyotype yezofuzo ingenziwa ngenxa yokungabi nantlungu. Njengoko kuphawuliwe ngasentla, ezinye iimeko ezingavumelekanga zithengwa zingabonwa ngabantu. Ibhinqa ene-Turner syndrome okanye indoda enye yezinto ezahlukileyo zeKlinefelter ayinakuyibona loo mqathango ade ikwazi ukujamelana nokungahambi.
- Ukuvavanywa kwangaphambi kokubeleka - Kwezinye iimeko, ezifana nokutshintshwa kwe-Down syndrome, imeko ingaba yindlalifa kwaye abazali banokuvavanywa ukuba umntwana uzalwe nge-Down syndrome. (Kubalulekile ukuqaphela ukuba ininzi yexesha I-Down syndrome ayilona ingxaki yokuzalwa kodwa kunokuba utshintshe ithuba.)
- Ukubeleka - I-karyotype isoloko iyenziwa njengenxalenye yokuvavanywa emva kokubeleka.
- Ukulahleka kwamathambo okuphindaphindiweyo - I-karyotype yomzali yezidumbu ezingapheliyo zingapha iingqinisiso ngezizathu zezilahleko eziphazamisayo eziphindaphindiweyo. Kucingelwa ukuba i-chromosomal engafanelekanga, efana ne-trisomy 16 yimbangela ye-50 engama-% yezinto ezilahlekileyo.
- Uvavanyo lwe-Leukemia - I-Karyotype luya kwenziwa kwakhona ukunceda ukuxilonga i-leukemi, umzekelo, ngokukhangela i- chromosome yeFiladelphia efunyenwe kwabanye abantu abane-leukemia engapheliyo okanye i-lymphocytic leukemia.
Amanyathelo athathwe kwi-Karyotype Test
Uvavanyo lwekaryotype lungava ngathi luvavanyo lwegazi olulula, olwenza abaninzi abantu bazibuze ukuba kutheni kuthatha ixesha elide ukufumana iziphumo. Olu vavanyo luyinkimbinkimbi emva kokuqokelela. Makhe sijonge ezi nyathelo ukuze uqonde oko kwenzekayo ngexesha lokulinda uvavanyo.
1. I Sample Collection
Isinyathelo sokuqala ekwenzeni ikaryotype kukuqokelela isampuli. Kwiintsana ezisanda kuzalwa, isampuli yegazi equkethe iiseli ezibomvu zegazi, iiseli zegazi ezimhlophe, i-serum, kunye nezinye izifo zamanzi ziqokelelwa. I-karyotype iya kwenziwa kwiiseli ezimhlophe zegazi ezihlukana ngokubanzi (i-state eyaziwa ngokuba yi-mitosis). Ngethuba lokukhulelwa, isampula ingaba yi-amniotic fluid eqokelelwe ngexesha le-amniocentesis okanye iqela le-placenta eqokelelwe ngexesha lovavanyo lwe-chorionic villi (i-CVS). I-amniotic fluid iqulethe iiseli zefestile ezisetyenziselwa ukuvelisa ikaryotype.
2. Izothutho kwiLebhu
I-Karyotypes zenziwa kwibhubhrikhi ethile ebizwa ngokuba yi-cytogenetics yebhu-ibrabhu eqhuba i-chromosomes. Azikho zonke izibhedlele ezine-larogenetics labs. Ukuba isibhedlele sakho okanye isibonelelo sezokwelapha asinayo i-laboratory ye-cytogenetics, isampuli yovavanyo iya kuthunyelwa kwibhabhi ejoliswe kuhlalutyo lwekaryotype. Isampuli yokuvavanya ihlalutyiweyo ngabathengi be-cytogenetic abaqeqeshiwe ngokukhethekileyo, i-Ph.D. i-cytogeneticists, okanye i-geneticists yezokwelapha.
3. Ukwahlula iiseli
Ukuze uhlalutye ama-chromosomes, isampuli kufuneka iqulethe iiseli ezihlula ngokuthe ngqo. Egazini, iiseli ezimhlophe zegazi ziyahlula. Uninzi lwamaseli e-fetal luhlukana ngokubanzi. Emva kokuba isampuli sifinyelele kwi-lab ye-cytogenetics, iiseli ezingafaniyo zihlukaniswe kwiiseli ezihlula zisebenzisa iikhemikhali ezikhethekileyo.
4. Ukukhula kwamaCells
Ukuze kube neeseli ezaneleyo zokuhlalutya, iiseli ezahlula zikhulile kwiimfuno ezizodwa okanye kwinkcubeko yeseli. Ezi endaba ziqulethe iikhemikhali kunye ne-hormone ezenza iiseli zihlukane kwaye zande. Le nkqubo yokukhusela ingathatha iintsuku ezintathu ukuya kwezine kwiiseli zegazi, kwaye kube ngeveki kwiiseli zomntwana.
5. Ukuvumelanisa iiseli
I-Chromosomes yintambo ende ende ye-DNA yabantu. Ukuze ubone ama-chromosomes phantsi kwe-microscope, i-chromosomes kufuneka ibe kwifom yabo ehambelanisiweyo kwisigaba sesahlulo seseli (mitosis) esibizwa ngokuba yi-metaphase. Ukuze ufumane zonke iiseli kule nqanaba elithile lesahlulo seeseli, iiseli ziphathwa ngekhemikhali eyekelela ukuhlukana kweseli kwindawo apho i-chromosomes yinto ehambelana ngayo.
6. Ukukhulula ii-Chromosomes ezivela kwiiseli zazo
Ukuze ubone ezi kromosomes ezihambelanayo phantsi kwe-microscope, i-chromosomes kufuneka iphume kwiiseli ezimhlophe zegazi. Oku kwenziwa ngokuphatha iiseli ezimhlophe zegazi ngesisombululo esibalulekileyo esenza ukuba siphume. Oku kwenziwa ngelixa iiseli zikwisilayidi esincinci. I-debris ehlayo evela kumaseli amhlophe egazini ihlanjululwa, ishiya i-chromosomes inamathele kwisilayidi.
7. Ukugcina ii-Chromosomes
I-Chromosomes ngokwemvelo ayinambala. Ukuze utshele enye i-chromosome kwenye, idayi ekhethekileyo ebizwa ngokuba yi-Giemsa daye isetyenziswe kwisilayidi. Idayi ye-Giemsa inonakalisa iindawo ze-chromosomes ezizityebi kwi-basen adenine (A) kunye ne-thymine (T). Xa zihlambulukile, i-chromosomes ibonakala ngathi imida kunye namaqela amnyama kunye namnyama. I-chromosome nganye inomzekelo othile wee-bands ezikhanyayo kunye namnyama ezivumela i-cytogeneticist ukuba ixele i-chromosome enye kwenye. Ibomvu ngalinye elikhanyayo okanye elikhanyayo liquka ikhulu leendiza ezahlukeneyo.
8. Uhlalutyo
Xa ama-chromosomes sele athathwe, isilayidi ifakwa phantsi kwe-microscope ukuhlalutya. Umfanekiso uthathwa ngama-chromosomes. Ekupheleni kohlalutyo, inani lama-chromosomes liya kuchongwa kwaye ama-chromosomes ahlelwe ngobukhulu.
9. Ukubala i-Chromosomes
Isinyathelo sokuqala sohlalutyo lubalwa ngama-chromosomes. Uninzi lwabantu lunama-chromosomes angama-46. Abantu abane-Down syndrome baneama-chromosomes angama-47. Kwakhona kunokwenzeka ukuba abantu balahleke i-chromosomes, ngaphezulu kweyodwa i-chromosome eyongezelelweyo, okanye isahluko se-chromosome elahlekileyo okanye ephindiwe. Ngokujonga nje inani lama-chromosomes, kunokwenzeka ukuba ufumane iziganeko ezahlukeneyo kuquka i-Down syndrome.
10. Ukuhlela iiCromosomes
Emva kokugqiba inani lama-chromosomes, i-cytogeneticist iya kuqala ukuhlunga i-chromosomes. Ukuhlalutya i-chromosomes, i-cytogeneticist iya kuqhathanisa ubude be-chromosome, ukufakwa kwe-centromeres (indawo apho i-chromatids ezimbini zidibene khona), kunye nendawo kunye nobukhulu bee-G-band. Ama-chromosomes amabini abalwa ukusuka kukhulu (inombolo 1) ukuya kuncinci (inombolo 22). Kukho iiyunithi ezingama-22 zama-chromosomes, ezibizwa ngokuba ngama-autosomes, ezidibanisa ngqo. Kukho i-chromosomes yesini, amabhinqa anama-chromosomes amabili amabini ngelixa abesilisa abane X ne-Y.
11. Ukujonga kwiZakhiwo
Ukongezelela ukujonga inani elipheleleyo lama-chromosomes kunye ne-chromosomes yesini, i-cytogeneticist iya kujonga nesakhiwo se-chromosomes ethile ukuqinisekisa ukuba akukho nto ilahlekileyo okanye izinto ezongezelelweyo kunye nokungaqhelekanga kwezakhiwo ezifana nokuthunyelwa kwendawo. Ukufuduka kwenzeka xa inxalenye yekromosome enye ifakwe kwenye i-chromosome. Kwezinye iimeko, ii-chromosomes ezimbini zitshintshiselwa (i-translocation elungelelanisiweyo) kunye nezinye izihlandlo zongezwa okanye zilahleka kwi-chromosome enye yedwa.
12. Isiphumo sokugqibela
Ekugqibeleni, i-karyotype yokugqibela ibonisa inani elipheleleyo lama-chromosomes, isondo, kunye naluphi na uhlobo olungavumelekanga ngolwakhiwo lwe-chromosomes. Umfanekiso wedijithali we-chromosomes uveliswa ngawo onke ama-chromosomes ahlelwe ngenani.
Imilinganiselo yovavanyo lweKaryotype
Kubalulekile ukuba uqaphele ukuba ngelixa uvavanyo lwe karyotype lunokunika ulwazi oluninzi kuma-chromosomes, lo vavanyo alinakukuxelela ukuba utshintsho oluthile lwezityalo, njengalezo ezibangelwa i- cystic fibrosis , zikhoyo. Umcebisi wakho wezofuzo unokukunceda uqonde ukuba ziphi iimvavanyo zekaryotype ezinokukuxelela kunye noko akunako. Izifundo ezongezelelweyo zifunekayo ukuvavanya inxaxheba ebonakalayo yokuguquka kwemfuza kwizifo okanye ukulahlekelwa ngamathambo.
Kwakhona kubalulekile ukuqaphela ukuba ngamanye amaxesha ukuhlolwa kwekaryotype kungenako ukufumanisa ezinye izinto ezingaqhelekanga, njengokuba kubonakala ukuba ubukhombisi be-placental bukhona.
Ngelixa elizayo
Ngexesha langoku, uvavanyo lwekaryotype kwisimo sokubeletha luyingozi, lufuna i-amniocentesis okanye i-chorionic villus. Izifundo ziyaqhubeka nokuvavanya i-DNA engenazo iisampuli kwi-sampuli yegazi lomama njengenye indlela engaphantsi kwe-invasive yokuxilongwa kokubeleka kokuzalwa kwe-genetic ebusweni.
Ngaphantsi kokulindela iziphumo zakho zeKaryotype
Ngelixa ulinde iziphumo zakho zekaryotype unokuba uzive uxhalabile kakhulu, kunye neveki okanye ezimbini kuthatha ukufumana iziphumo zivakalelwa njengezons. Thatha ixesha lokuba uthembele kubahlobo bakho kunye nosapho. Ukufunda ngeemeko ezinxulumene nama-chromosomes angavumelekanga kunokunceda. Nangona ezininzi zeemeko ezifunyaniswe nekaryotype zinokuphazamisa, kukho abantu abaninzi abahlala nale miqathango abanomgangatho obalulekileyo wokuphila.
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