Teko ea liphatsa tsa lefutso ea Karyotype

Litaba

• Teko ea karyotype ke eng?
• E sebelisetsoa eng?
• Hobaneng ha ke hloka tlhahlobo ea karyotype?
• Ho etsahalang nakong ea teko ea karyotype?
• Na ke tla hloka ho etsa eng kapa eng ho itokisetsa tlhahlobo?
• Na ho na le likotsi tsa tlhahlobo?
• Liphetho li bolelang?
• Na ho na le eng kapa eng eo ke hlokang ho e tseba ka tlhahlobo ea karyotype?
• Litšupiso

Teko ea karyotype ke eng?

Teko ea karyotype e sheba boholo, sebōpeho le palo ea li-chromosome tsa hau. Li-chromosome ke likarolo tsa lisele tsa hau tse nang le liphatsa tsa hau tsa lefutso. Liphatsa tsa lefutso ke likarolo tsa DNA tse fetisitsoeng ho tsoa ho mme le ntate oa hau. Li na le tlhaiso-leseling e khethollang litšobotsi tsa hau tse ikhethang, joalo ka bophahamo le 'mala oa mahlo.

Ka tloaelo batho ba na le li-chromosome tse 46, ba arotsoe ka lihlopha tse 23 ka seleng ka 'ngoe. E 'ngoe ea li-chromosome ka' ngoe e tsoa ho 'm'ao,' me e 'ngoe e tsoa ho ntate oa hao.

Haeba u na le li-chromosome tse ngata kapa tse fokolang ho feta tse 46, kapa haeba ho na le letho le sa tloaelehang ka boholo kapa sebōpeho sa li-chromosome tsa hau, ho ka bolela hore u na le lefu la lefutso. Hangata ho sebelisoa tlhahlobo ea karyotype ho thusa ho fumana liphoso tsa lefutso ho lesea le ntseng le hola.

Mabitso a mang: liteko tsa liphatsa tsa lefutso, liteko tsa chromosome, lithuto tsa chromosome, tlhahlobo ea cytogenetic

E sebelisetsoa eng?

Teko ea karyotype e ka sebelisoa ho:

• Lekola lesea le e-s'o hlahe bakeng sa mathata a liphatsa tsa lefutso
• Hlahloba lefu la liphatsa tsa lefutso ho lesea kapa ho ngoana e monyane
• Fumana hore na bothata ba chromosomal bo thibela mosali ho ima kapa o baka ho senyeheloa ke mpa
• Lekola ngoana ea tsoetsoeng a hlokahetse (lesea le hlokahetseng morao nakong ea bokhachane kapa nakong ea tsoalo) ho bona hore na phoso ea chromosomal ke eona sesosa sa lefu
• Bona hore na u na le lefu la lefutso le ka fetisetsoang ho bana ba hau
• Hlahloba kapa u etse moralo oa kalafo bakeng sa mefuta e itseng ea mofetše le mathata a mali

Hobaneng ha ke hloka tlhahlobo ea karyotype?

Haeba u imme, u ka 'na ua batla ho etsa tlhahlobo ea karyotype bakeng sa lesea la hao le e-s'o hlahe haeba u na le mabaka a itseng a kotsi. Tsena li kenyelletsa:

• Lilemo tsa hau. Kotsi e akaretsang ea bofokoli ba liphatsa tsa lefutso e nyane, empa kotsi e phahame ho basali ba nang le masea ba lilemo li 35 kapa ho feta.
• Nalane ea lelapa. Kotsi ea hau e eketseha haeba uena, molekane oa hau, le / kapa e mong oa bana ba hau a na le lefu la lefutso.

Lesea la hau kapa ngoana oa hau e monyane a ka hloka tlhahlobo haeba a na le matšoao a lefu la lefutso. Hona le mefuta e mengata ea mathata a liphatsa tsa lefutso, o mong le o mong o na le matšoao a fapaneng. Uena le mofani oa tlhokomelo ea bophelo ba hau le ka bua ka hore na tlhahlobo e khothalletsoa.

Haeba u mosali, u ka hloka tlhahlobo ea karyotype haeba u bile le bothata ba ho ima kapa u bile le ho senyeheloa hangata. Le ha ho senyeheloa ke mpa ho le ntho e le 'ngoe, haeba u bile le tse' maloa, e kanna eaba ke lebaka la bothata ba chromosomal.

U kanna ua hloka tlhahlobo ea karyotype haeba u na le matšoao a kapa u fumanoe u na le leukemia, lymphoma, kapa myeloma, kapa mofuta o itseng oa phokolo ea mali. Mathata ana a ka baka liphetoho tsa chromosomal. Ho fumana liphetoho tsena ho ka thusa mofani oa hau ho hlahloba, ho lekola le / kapa ho alafa lefu lena.

Ho etsahalang nakong ea teko ea karyotype?

Bakeng sa tlhahlobo ea karyotype, mofani oa hau o tla hloka ho nka sampole ea lisele tsa hau. Litsela tse tloaelehileng tsa ho fumana sampole li kenyelletsa:

• Teko ea mali. Bakeng sa tlhahlobo ena, setsebi sa tlhokomelo ea bophelo se tla nka sampole ea mali mothapong o letsohong la hao, a sebelisa nale e nyane. Kamora hore nalete e kenngoe, ho tla bokelloa mali a manyane ka har'a pompo ea liteko. U ka ikutloa u hlaba hanyane ha nale e kena kapa e tsoa. Hangata hona ho nka nako e ka tlase ho metsotso e mehlano.
• Ho etsa liteko tsa bakhachane ka amniocentesis kapa sampling ea chorionic villus (CVS). Chorionic villi ke lijalo tse nyane tse fumanoang placenta.

Bakeng sa amniocentesis:

• U tla robala ka mokokotlo tafoleng ea liteko.
• Mofani oa hau o tla tsamaisa sesebelisoa sa ultrasound ka mpeng ea hau. Ultrasound e sebelisa maqhubu a molumo ho lekola boemo ba popelo ea hau, placenta le lesea.
• Mofani oa hau o tla kenya nale e tšesaane ka mpeng ebe o tlosa lero le lenyenyane la amniotic fluid.

Hangata Amniocentesis e etsoa pakeng tsa beke ea 15 le 20 ea bokhachane.

Bakeng sa CVS:

• U tla robala ka mokokotlo tafoleng ea liteko.
• Mofani oa hau o tla tsamaisa sesebelisoa sa ultrasound ka mpeng ho hlahloba boemo ba popelo ea hau, placenta le lesea.
• Mofani oa hau o tla bokella lisele ho tsoa ho placenta ka e 'ngoe ea litsela tse peli: ebang ke ka molomo oa hau o nang le tube e tšesaane e bitsoang catheter, kapa ka nale e tšesaane ka mpeng.

Hangata CVS e etsoa lipakeng tsa beke ea 10 le 13 ea bokhachane.

Tlhahiso ea Bone Marrow le Biopsy. Haeba u ntse u hlahlojoa kapa u phekoloa mofuta o itseng oa mofets'e kapa lefu la mali, mofani oa hau a ka hloka ho nka sampole ea moko oa masapo. Bakeng sa teko ena:

• U tla robala ka lehlakore kapa ka mpeng, ho latela hore na ke lesapo lefe le tla sebelisoa ho etsa liteko. Boholo ba liteko tsa moko oa masapo li nkuoa masapong a noka.
• Sebaka sena se tla hloekisoa ka sethibela-mafu.
• U tla fumana ente ea tharollo ea bohlasoa.
• Hang ha sebaka se felloa ke matla, mofani oa tlhokomelo ea bophelo o tla nka sampole.
• Bakeng sa takatso ea moko oa masapo, e atisang ho etsoa pele, mofani oa tlhokomelo ea bophelo o tla kenya nale ka lesapo ebe o ntša mokelikeli oa masapo le lisele. U ka utloa bohloko bo hlabang empa bo khuts'oane ha nale e kentsoe.
• Bakeng sa biopsy ea moko oa masapo, mofani oa tlhokomelo ea bophelo o tla sebelisa sesebelisoa se ikhethileng se kenang masapong ho ntša sampole ea lisele tsa moko oa masapo. U kanna oa utloa khatello sebakeng seo ha sampole e ntse e nkuoa.

Na ke tla hloka ho etsa eng kapa eng ho itokisetsa tlhahlobo?

Ha o hloke litokisetso tse khethehileng bakeng sa tlhahlobo ea karyotype.

Na ho na le likotsi tsa tlhahlobo?

Ho na le kotsi e nyane haholo ea ho etsa tlhahlobo ea mali. U kanna oa ba le mahlaba a fokolang kapa ho longoa moo nale e kentsoeng teng, empa matšoao a mangata a fela kapele.

Liteko tsa Amniocentesis le CVS hangata ke lits'ebetso tse bolokehileng haholo, empa li na le kotsi e nyane ea ho baka ho senyeheloa ke mpa. Bua le mofani oa tlhokomelo ea bophelo ka likotsi le melemo ea liteko tsena.

Kamora tlhahlobo ea 'moko oa masapo le tlhahlobo ea biopsy, o kanna oa ikutloa o le manganga kapa o bohloko setsing sa ente. Hangata sena sea fela ka matsatsi a 'maloa. Mofani oa hao oa tlhokomelo ea bophelo a ka khothaletsa kapa a fana ka moriana oa bohloko oa ho thusa.

Liphetho li bolelang?

Haeba liphetho tsa hau li ne li sa tloaeleha (li sa tloaeleha), ho bolela hore uena kapa ngoana oa hau le na le li-chromosome tse fetang kapa tse 46, kapa ho na le ho hong ho sa tloaelehang ka boholo, sebopeho, kapa sebopeho sa chromosome e le 'ngoe kapa tse' maloa. Li-chromosome tse sa tloaelehang li ka baka mathata a fapaneng a bophelo bo botle. Matšoao le ho tiea ho latela hore na li-chromosome li amehile joang.

Mathata a mang a bakoang ke bofokoli ba chromosomal a kenyelletsa:

• Lefu la Down, pherekano e bakang bokooa ba kelello le tieho ea kholo
• Lefu la Edwards, boloetse bo bakang mathata a maholo pelong, matšoafong le liphio
• Turner lefu, boloetse ho banana bo amang kholo ea litšobotsi tsa basali

Haeba u ile ua lekoa hobane u na le mofuta o itseng oa mofets'e kapa lefu la mali, sephetho sa hau se ka bonts'a hore na boemo ba hau bo bakoa ke phoso ea chromosomal kapa che. Liphetho tsena li ka thusa mofani oa hao oa tlhokomelo ea bophelo ho u etsetsa leano le molemo ka ho fetisisa la kalafo.

Ithute haholoanyane ka liteko tsa laboratori, libaka tsa litšupiso, le liphetho tsa kutloisiso.

Na ho na le eng kapa eng eo ke hlokang ho e tseba ka tlhahlobo ea karyotype?

Haeba u ntse u nahana ka ho etsa liteko kapa u fumane sephetho se sa tloaelehang tlhahlobong ea hau ea karyotype, ho ka thusa ho bua le moeletsi oa liphatsa tsa lefutso.Moeletsi oa liphatsa tsa lefutso ke setsebi se koetlisitsoeng ka ho khetheha liphatseng tsa lefutso le liteko tsa lefutso. A ka u hlalosetsa hore na liphetho tsa hau li bolelang, au tataisetsa litšebeletso, le ho u thusa ho etsa liqeto tse nang le tsebo ka bophelo ba hau kapa bophelo ba ngoana oa hau.

Litšupiso

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Tlhahisoleseling e fumanehang sebakeng sena sa marang-rang ha ea lokela ho sebelisoa ho nka sebaka sa tlhokomelo ea bongaka le likeletso. Ikopanye le mofani oa tlhokomelo ea bophelo haeba u na le lipotso ka bophelo ba hau.