I-Karyotyping

I-Karyotyping isivivinyo sokuhlola ama-chromosomes kusampula lamaseli. Lokhu kuhlolwa kungasiza ekuboneni izinkinga zofuzo njengezimbangela zesifo noma isifo.

Ukuhlolwa kungenziwa cishe kunoma yisiphi isicubu, kufaka phakathi:

• Amniotic uketshezi
• Igazi
• Umkantsha
• Izicubu zomzimba ezikhula ngesikhathi sokukhulelwa ukondla ingane ekhulayo (i-placenta)

Ukuhlola i-amniotic fluid, kwenziwa i-amniocenteis.

Kudingeka i-bone marrow biopsy ukuthatha isampula lomnkantsha.

Isampula lifakwa esitsheni esikhethekile noma kushubhu futhi livunyelwe ukuthi likhule elabhoratri. Amaseli athathwa kamuva kusampula entsha afakwe amabala. Uchwepheshe waselabhoratri usebenzisa imicroscope ukuhlola ubukhulu, ukwakheka, kanye nenombolo yama-chromosomes kusampula leseli. Isampuli enamabala ithwetshulwa ukukhombisa ukuhlelwa kwama-chromosomes. Lokhu kubizwa nge-karyotype.

Izinkinga ezithile zingabonakala ngenombolo noma ngokuhlelwa kwama-chromosomes. Ama-Chromosomes aqukethe izinkulungwane zofuzo ezigcinwe ku-DNA, okuyizinto eziyisisekelo zofuzo.

Landela imiyalo yomhlinzeki wezokunakekelwa kwempilo yokuthi ungalungiselela kanjani ukuhlolwa.

Ukuthi isivivinyo sizozizwa kanjani sincike ekutheni inqubo yesampula idonswa ngegazi (i-venipuncture), i-amniocentesis, noma i-bone marrow biopsy.

Lokhu kuhlolwa kungakwazi:

• Bala inani lama-chromosomes
• Bheka ushintsho olwakhiwe kuma-chromosomes

Lokhu kuhlolwa kungenziwa:

• Kumbhangqwana onomlando wokukhulelwa kwesisu
• Ukuhlola noma iyiphi ingane noma ingane enezici ezingavamile noma ukubambezeleka kokukhula

Umnkantsha wamathambo noma ukuhlolwa kwegazi kungenziwa ukukhomba i-chromosome yaseFiladelphia, etholakala kubantu abangama-85% abane-leukemia engapheli (i-CML).

Ukuhlolwa kwe-amniotic fluid kwenziwa ukuhlola ingane ekhulayo ngezinkinga ze-chromosome.

Umhlinzeki wakho anga-oda ezinye izivivinyo ezihambisana ne-karyotype:

• I-Microarray: Ibheka ushintsho oluncane kuma-chromosomes
• I-Fluorescent in situ hybridization (FISH): Ibheka amaphutha amancane njengokukhishwa kuma-chromosomes

Imiphumela ejwayelekile yile:

• Abesifazane: ama-autosomes angama-44 nama-chromosomes ocansi ama-2 (XX), abhalwe njengo-46, XX
• Abesilisa: ama-autosomes angama-44 nama-chromosomes ocansi ama-2 (XY), abhalwe njengo-46, XY

Imiphumela engajwayelekile ingahle ibangelwe yisifo sofuzo noma isimo, njenge:

• I-Down syndrome
• I-Klinefelter syndrome
• I-chromosome yaseFiladelphia
• I-Trisomy 18
• I-Turner syndrome

I-Chemotherapy ingadala amakhefu e-chromosome athinta imiphumela ejwayelekile ye-karyotyping.

Izingozi zihlobene nenqubo esetshenzisiwe ukuthola isampula.

Kwezinye izimo, inkinga ingenzeka kumaseli akhula esitsheni selabhu. Ukuhlolwa kweKaryotype kufanele kuphindwe ukuqinisekisa ukuthi inkinga engavamile ye-chromosome isemzimbeni womuntu.

Ukuhlaziywa kwe-Chromosome

• I-Karyotyping

IBacino CA, uLee B. ICytogenetics. Ku: Kliegman RM, Stanton BF, St Geme JW, Schor NF, ama-eds. Incwadi kaNelson Yezingane. Umhla ka-20. IPhiladelphia, PA: Elsevier; 2016: isahluko 81.

UStein CK. Izicelo ze-cytogenetics ku-pathology yanamuhla. Ku: McPherson RA, Pincus MR, abahleli. UHenry’s Clinical Diagnosis and Management by Laboratory Methods. Umhla ka-23. ISt Louis, MO: Elsevier; 2017: isahluko 69.