Ixabiso leKaryotyping

Yintoni Le Mvavanyo Elula Yingakuxelela Ngayo Impilo Yakho

I-karyotype, ngokwenene, imifanekiso ye-chromosomes ekhoyo kwiseli enye. I-Chromosomes ziyizakhiwo ezinjengezintambo ngaphakathi kwisucleus yeeseli ezenziwe ngeprotheni kunye ne-molecule enye ye-deoxyribonucleic acid (DNA). I-DNA iqulethe imiyalelo ethile eyenza uhlobo oluthile lwezidalwa eziphilayo, ngokubhekiselele kwiNational Human Genome Research Institute.

Ugqirha uya kudlalela i-karyotype ukuze aqinisekise ukuba imeko ibangelwa uhlobo oluthile lweengxaki zobomi. Uvavanyo olungenabuhlungu, olubandakanya ubuncinane ngaphezu kwenaliti yokuthoba ukufumana isampuli yesisulu, kodwa inokutshilo eninzi ngempilo yomntu. Nantsi ingqwalasela yendlela yokwenza i-karyotyping eyenziwe kunye nokuba yintoni inokuyityhila.

Indlela i-Karyotypes eyenziwa ngayo

I-karyotype ingadalwa kwiintlobo ezahlukeneyo zeethambo. Ngokuqhelekileyo, isampuli yegazi yiyo yonke into efunekayo, kodwa ukuba kukho inkxalabo yokuba umntwana okhulayo une-chromosomal engaqhelekanga, u-amniotic fluid angadinga ukutsalwa. Oku kuquka ukufaka inaliti kwisisu somfazi okhulelwe-inkqubo ekhuselekileyo kwaye ingenabuhlungu.

Emva kokuba isampuli iqokelelwe, iya kuhlaziywa kwibhubhoratri yesazi ebizwa ngokuba yi-cytogeneticist eya kuhlukanisa iiseli, ikhule ukuze kubekho okwaneleyo ukuhlalutya, ize ikhulule i-chromosomes kwiiseli.

Ngeli nqanaba, i-chromosomes iya kukhishwa, ihlaziywe, ibale, ize ihlelwe.

I-cytogeneticist iya kujonga kwakhona kwisakhiwo se-chromosome ukuqinisekisa ukuba akukho nto ilahlekileyo okanye ifakwe kwizinto eziphathekayo zofuzo. Emva kokuba le nkqubo iphelele, iziphumo zibhalwa kwaye iziphumo zovavanyo zigqithiselwe kudokotela oye wayala i-karyotype, ngokuqhelekileyo kwiintsuku ezintathu ukuya kwezixhenxe.

Kuthatha ixesha elide ukudala i-karyotype yesampula ngaphambi kokubeletha, nangona kunjalo-naphi na kwiintsuku ezili-10 ukuya kwe-14.

Umfanekiso wezeMpilo

Into yokuqala i-karyotype ibonisa ukuba inani lama-chromosomes umntu analo: Kwisesampula eqhelekileyo, kukho iiyunithi ezingama-23 zama-chromosomes ezingama-46. I-karyotype iphinda iqinisekise ubulili be-biological: ezimbini ii-chromosomes zibonisa ibhinqa; I-X ne-Y chromosome ibonisa indoda.

Ngaphandle kwalolu lwazi oluyisiseko, i-cytogeneticist ingasebenzisa i-karyotype ukuxilonga nayiphi na isifo okanye imeko ebangelwa ukuba i-chromosomes eyongezelelweyo okanye engekho. Ngokomzekelo, i-Down syndrome iphumela xa kukho ikhophi epheleleyo okanye eyincinane yechromosome 21, ngokwe-National Down Syndrome Society. Ngenxa yoko, i-Down syndrome ngamanye amaxesha ibizwa ngokuba yi-trisomy 21.

Ezinye iimeko ezinokuthi zifunyenwe usebenzisa i-karyotyping ziquka:

I-karyotype nayo ingabonisa ukukhishwa kwe-chromosomes eyona nto ibangela izimo ezifana ne-Cri-du-Chat syndrome (i-chromosome 5) okanye i-Williams syndrome (i-chromosome 7), kunye nokuhanjiswa kwendawo enye enye ye-chromosome ifumaneka okanye utshintshe enye inxalenye yechromosome eyahlukileyo.

Ukususela kuma-2 ekhulwini ukuya kuma-3 ekhulwini kwiimeko ze-Down syndrome kubangelwa ukudluliselwa kwi-chromosome 21, umzekelo.

Ubunokwenzeka ukuba i-karyotype iya kubonisa ingxaki enkulu yemfuyo kuwe okanye umntwana ongakazalwa angenza ingcamango yokuba neyesabisayo, kodwa khumbula ukuba ulwazi olungakumbi malunga nenkxalabo yezempilo, uya kukwazi ukujongana nayo .

> Imithombo:

> Medline Plus. "Karyotyping."

> I-National Down Syndrome Society. "Yintoni I-Down Syndrome?"

> I-National Human Genome Research Institute. "Ii-Chromosomes." NgoJuni 16, 2015.