Manufar da matakai da ke tattare da gwajin Karyotype
Idan likitanku ya bada shawarar gwada gwajin karyotype a gare ku ko yaronku, ko bayan amniocentesis, menene wannan gwaji ya ƙunshi? Wadanne yanayi ne na iya gano asalin karyotype, menene matakan da ke cikin gwajin, kuma menene iyakokinta?
Menene Gwajin Karyotype?
Karyotype hoto ne na chromosomes a cikin tantanin halitta . Za a iya amfani da kwayoyin jini daga kwayoyin jini, jikin fata na fetal (daga ruwa mai amniotic ko ƙwayar placenta), ko ƙwayoyin ɓawon nama.
Wadanne ka'idoji za a iya gano su tare da gwajin Karyotype?
Karyotypes za a iya amfani dashi don dubawa don tabbatar da abubuwan rashin haɗari na chromosomal kamar Down syndrome, kuma akwai wasu iri-iri iri iri wadanda za'a iya gano.
Ɗaya daga cikin waɗannan shine burbushi wanda akwai uku na ɗaya daga cikin chromosomes maimakon biyu. Ya bambanta, lokuttuka suna faruwa ne kawai lokacin da guda ɗaya kawai (a maimakon biyu) ya kasance. Bugu da ƙari, ƙwayoyin cuta da rikice-rikice akwai maye gurbin chromosome wanda ɓangare na chromosome ya ɓace, da kuma ƙaurawar chromosome, wanda wani ɓangare na chromosome an haɗa shi zuwa wani chromosome (kuma a madaidaiciya a cikin ƙaddarawa daidai).
Misalan trisomies sun hada da:
- Down syndrome (trisomy 21)
- Edward ciwo ( trisomy 18 )
- Ciwon Patau (trisomy 13)
- Klinefelter ta ciwo (XXY da wasu bambancin) - Ciwo na Klinefelter na faruwa a cikin 1 a 500 maza na jarirai kuma ya bayyana yana karawa cikin hadarin
- Magani uku na X (XXX)
Misalin misalin da ya hada da:
- Hanyar Turner (X0) ko haɗin jiki X - Kusan kashi 15 cikin dari na rashin kuskure ne saboda rashin lafiya na Turner, amma wannan ƙwayar cuta tana cikin kusan kimanin 1 a 2000 na haihuwa
Misalan maye gurbin chromosomal sun haɗa da:
- Cri-du-Cigar Cigaba (nakasawar nakasar 5)
- Ciwon ƙwayar Williams (bacci na ɓoye 7)
Gudun hanyoyi - Akwai misalai da yawa na ƙaura ciki har da ƙwayar Down syndrome. Rikici na Robertsonian yana da yawa, yana faruwa a kusan 1 a cikin mutane 1000.
Mosaicism shine yanayin da wasu kwayoyin jikinsu suke da mummunan rashin lafiya na chromosomal yayin da wasu basuyi. Alal misali, ƙwayar Down syndrome ko mosaic trisomy 9. Cikakken nauyin jiki 9 ba dace da rayuwa ba, amma ƙwayar cuta 9 zai iya haifar da haihuwa.
(Wani misalin yana da dubban kalmomi.) Koyi game da bambancin dake tsakanin fassarar, ƙwayar cuta, da Mosaic Down syndrome .)
Yaushe An Yi Karyotype?
Akwai yanayi da yawa wanda likitanku zai iya bayar da shawarar karyotype. Wadannan zasu hada da:
- Yara jarirai ko yara waɗanda ke da yanayin kiwon lafiya wanda ke nuna yiwuwar rashin rashin lafiya na chromosomal wanda bai rigaya aka gano shi ba.
- Mazan da ke da alamun cututtuka suna nuna damuwa da rashin ciwo na chromosomal (alal misali, mutanen da cutar Klinefelter na iya faruwa ba tare da nuna shakku ba har sai sun tsufa ko girma.) Wasu daga cikin cututtukan ƙwayoyin cuta na jiki na iya zama marasa tabbacin.
- Rashin rashin amfani - Karyotype kwayar halitta za a iya yi don rashin haihuwa. Kamar yadda muka gani a sama, wasu abubuwan rashin halayyar chromosomal na iya zuwa ba a gane su ba har sai sun girma. Wata mace tare da Turner ciwo ko wani mutum da daya daga cikin bambance-bambancen karatu na Klinefelter na iya ba da sanin yanayin har sai sun fuskanci rashin haihuwa.
- Gwaje-gwaje-gwaje - A wasu lokuta, irin su Down syndrome, saukar da yanayin yana iya kasancewa da iyayensu za'a iya jarraba idan an haife yaro tare da Down syndrome. (Yana da mahimmanci a lura cewa yawancin lokacin Down syndrome ba ƙari ba ne amma a maimakon maye gurbin.)
- Stillbirth - An yi amfani da karyotype a matsayin ɓangare na gwaji bayan bin haihuwa.
- Mace-rikice-rikice-rikice-rikice-rikice-rikice-rikice-rikice-rikice na mummunan ɓatacciyar ƙetare na iya bayar da alamomi game da dalilai na waɗannan asarar ɓatacciyar lalacewa. Ana tsammanin cewa abubuwan rashin haɗari na chromosomal, irin su cututtuka 16 suna haifar da kashi 50 cikin dari na rashin kuskure.
- Cutar sankarar bargo - Za a iya gwada gwajin karyotype don taimakawa wajen bincikar leukemias, misali, ta hanyar neman kimiyyar Philadelphia wanda aka samu a wasu mutanen da ke dauke da cutar sankarar jini ko kuma lymphocytic mai tsanani.
Matakan da suka shiga cikin gwajin Karyotype
Wani gwaji na karyotype zai iya zama kamar gwajin jini mai sauƙi, wanda ya sa mutane da yawa suyi mamaki dalilin da yasa yake daukan lokaci don samun sakamako. Wannan jarrabawar ta zama mai ban mamaki bayan tarin. Bari mu duba waɗannan matakai don ku fahimci abin da ke faruwa a lokacin da kuke jiran gwajin.
1. Samfurin Samfurin
Mataki na farko a yin karyotype shine tattara samfurin. A cikin jarirai, an samo jini da jini dauke da jini, jini mai tsabta, magani, da sauran ruwaye. Za a yi wani karyotype a kan fararen jini wadanda ke rarraba rayuka (wata sanannu da ake kira mitosis). A lokacin daukar ciki, samfurin na iya zama ruwan hawan amniotic da aka tattara a lokacin amniocentesis ko wani ɓangaren ƙwayar da aka tattara a lokacin gwajin samfurin ƙira (CVS). Ruwan amniotic yana dauke da fatar jikin fatar jiki wadda aka yi amfani da su don samar da karyotype.
2. Tashi zuwa Laboratory
Karyotypes an yi a cikin wasu dakin gwaje-gwaje da ake kira cytogenetics lab - lab wanda ke nazarin chromosomes. Ba duk asibitoci suna da shafukan cytogenetics ba. Idan asibiti ko cibiyar kiwon lafiya ba ta da ɗakin binciken cytogenetics, za a aika samfurin gwaji a cikin wani lab da ƙwarewa a cikin bincike na karyotype. Ana nazarin samfurin gwaje-gwaje ta hanyar masu fasahar zamani na zamani, Ph.D. cytogeneticists, ko likitocin kiwon lafiya.
3. Shirya Sel
Domin nazarin chromosomes, samfurin dole ne ya ƙunshi sel da suke rarraba rayayye. A cikin jini, jinin fararen jiki yana rabuwa. Yawancin tayi yana da rabuwa sosai. Da zarar samfurin ya kai yakin cytogenetics, an raba raguwa wadanda basu rabu da su daga rarraba kwayoyin ta amfani da sunadarai na musamman.
4. Sanyoyin Turawa
Don samun isassun ƙwayoyin don nazarin, ƙwayoyin halitta suna girma a kafofin watsa labaru na musamman ko al'adun salula. Wannan kafofin watsa labaru sun ƙunshi sunadarai da kuma hormones da suka taimaka wa sel su raba da ninka. Wannan tsari na al'ada zai iya ɗauka kwana uku zuwa hudu don jini, kuma har zuwa mako guda don tarin fuka.
5. Aiki tare Sel
Kwayoyin Chromosomes suna da jerin dogaro na DNA. Domin ganin chromosomes a karkashin wani microscope, chromosomes dole su zama a cikin mafi girman tsari a cikin wani ɓangare na rarraba kwayoyin (mitosis) da aka sani da metaphase. Domin samun dukkan kwayoyin zuwa wannan ƙayyadaddun tsari na rarrabawar sel, ana amfani da kwayoyin tareda sinadarai wanda ya dakatar da rarrabawar sel a wurin da chromosomes suka fi dacewa.
6. Yarda da Chromosomes Daga Sassansu
Don ganin wadannan ƙananan chromosomes a karkashin wani microscope, ƙwayoyin chromosomes sun kasance daga cikin jini. Ana yin wannan ta hanyar zalunta jinin jini mai tsabta tare da bayani na musamman wanda zai sa su fashe. Ana yin haka yayin da kwayoyin suna kan zane-zanen microscopic. An wanke lakaran da aka rushe daga jinin jinin, daga barin ƙwayoyin chromosomes zuwa ga slide.
7. Samun Chromosomes
Chromosomes sun kasance marasa launi. Domin ya gaya wa mutum daya daga cikin wani kwakwalwa, wani gilashi mai amfani da ake kira Giemsa Dye yana amfani da zane-zane. Giemsa Dye yana da yankunan chromosomes waɗanda suke da wadata a adasine (A) da thymine (T). Lokacin da aka kama, ƙwayoyin chromosomes suna kama da kirtani tare da maɗaura da haske. Kowace chromosome yana da wani nau'i na haske da ƙananan asiri waɗanda suke ba da damar cytogeneticist su fadawa wani chromosome daga wani. Kowane duhu ko haske ya ƙunshi daruruwan kwayoyin halitta.
8. Tattaunawa
Da zarar chromosomes aka zane, an sanya zane-zanen a karkashin na'urar microscope domin bincike. Ana daukar hotunan hotunan chromosomes. A ƙarshen bincike, za a ƙayyade adadin chromosomes kuma chromosomes sun shirya da girman.
9. Ƙidaya Chromosomes
Mataki na farko na bincike yana kirga chromosomes. Yawancin mutane suna da 46 chromosomes. Mutanen da ke ciwo da ƙananan ƙananan suna da kashi 47 da hamsin. Haka kuma akwai yiwuwar mutane su rasa chromosomes, fiye da ɗaya daga cikin samfurori, ko kuma wani ɓangare na chromosome da ke ɓacewa ko kuma duplicated. Ta hanyar kallon yawan adadin chromosomes, yana yiwuwa a tantance yanayi daban-daban ciki har da Down syndrome.
10. Raba Chromosomes
Bayan kayyade adadin chromosomes, cytogeneticist zai fara rarraba chromosomes. Don rarraba chromosomes, cytogeneticist zai kwatanta tsawon chromosome, sanyawa na centerores (wuraren da ake haɗawa da chromatids guda biyu), da kuma wuri da kuma girman G-band. Kwararrun chromosomes an ƙidaya daga mafi girma (lambar 1) zuwa mafi ƙanƙanci (lambar 22). Akwai nau'i nau'i nau'i biyu na chromosomes, wanda ake kira autosomes, wanda yayi daidai daidai. Haka kuma akwai jima'i na chromosomes, mata suna da X X-chromosomes yayin da maza suna da X da Y.
11. Dubi Tsarin
Baya ga duba yawan adadin chromosomes da jinsin chromosomes, cytogeneticist kuma zai dubi tsari na ƙayyadaddun chromosomes don tabbatar da cewa babu wani abu da ya ɓace ko ƙarin abubuwa da kuma abubuwan haɗari kamar tsarin tafiyarwa. Tsarin motsi yana faruwa ne lokacin da wani ɓangare na daya daga cikin kwakwalwa an haɗa shi zuwa wani chromosome. A wasu lokuta, an yi musayar guda biyu na chromosomes (hanyar tafiya daidai) da wasu lokutan an ƙara wani ƙarami ko ɓacewa daga ɗayan chromosome kadai.
12. Sakamakon karshe
A ƙarshe, karyotype na karshe ya nuna yawan adadin chromosomes, jima'i, da duk wani nau'i na halayen tsarin mutum tare da chromosomes. An tsara hotunan digiri na chromosomes tare da dukkanin chromosomes waɗanda aka shirya ta lamba.
Ƙayyadaddun gwajin Karyotype
Yana da muhimmanci a lura da cewa yayin gwajin karyotype na iya bayar da bayanai mai yawa game da chromosomes, wannan gwajin ba zai iya gaya maka ko ƙayyadadden ƙwayoyin halitta ba, kamar su wadanda ke haifar da cystic fibrosis , suna nan. Kwararren ku na taimakawa zai iya taimaka maka ka fahimci abin da gwaje-gwajen karyotype zai iya fada maka da abinda basu iya ba. Ana buƙatar ƙarin nazari don kimanta yiwuwar maye gurbin maye gurbi a cikin cututtuka ko rashin lafiya.
Yana da mahimmanci a lura cewa a wasu lokuta jarabawar karyotype bazai iya gano wasu abubuwan rashin hauka na chromosomal, kamar su lokacin da mosaicism na tsakiya yake.
Future
A halin yanzu, jarrabawar karyotype a cikin wuri mai daukar ciki yana da kishi, yana buƙatar amniocentesis ko chorionic villus samfur. Nazarin suna cigaba da kimanta DNA ba tare da tantanin halitta ba a cikin samfurin jini na mahaifi kamar sauƙaƙƙen ƙwayar cuta mai mahimmanci don ganewar ƙwaƙwalwar ƙwayar cuta ta mahaifa a cikin tayi.
Ƙashin Rashin Ƙira a Tsayar da Sakamako na Karyotype
Yayin da kake jiran sakamakon karyotype zaka iya jin damuwa sosai, kuma mako daya ko biyu yana so don samun sakamako zai iya jin kamar eons. Yi wannan lokacin don dogara ga abokai da iyali. Koyo game da wasu sharuɗɗan da ke hade da chromosomes maras kyau zasu iya taimakawa. Kodayake yawancin yanayin da aka gano tare da karyotype na iya zama yankunan, akwai mutane da dama waɗanda ke rayuwa tare da waɗannan yanayin waɗanda ke da kyakkyawan rayuwa.
> Sources
- > Kumar, Vinay, Abul K. Abbas, da kuma Jon C. Aster. Robbins da Cotran Pathologic Basis na cuta. Philadelphia: Elsevier-Saunders, 2015. Print.
- > Norton, M., da B. Rink. Canza Indiya ga gwajin gwagwarmaya a cikin wani nau'i na ingantaccen dubawa. Seminars a Perinatology . 2016. 40 (1): 56-66.
- > Shah, M., Cinnioglu, C., Maisenbacher, M., Comstock, I., Kort, J., da R. Lathi. Haɗuwa da Cytogenetics da kwayoyin Karyotyping don gwaji na Chromosome na Misalan Samurai. Furu da Sterility . 2017. 107 (4): 1028-1033.