Ukufumana iKaryotype ye-Down Syndrome

I-karyotype yama-chromosomes yakho iyakwazi ukubona nayiphi na i-trisomi

Kuzo zonke izilwanyana, ukusuka kubantu ukuya kwizityalo, iinqununu ezincinci zokwakha ezibizwa ngokuba yiiseli. Ezi iiseli zihluke kwiintsholongwane kunye nangomntu ngamnye, isilwanyana, okanye uzitshale ngokwawo. Kuloo maseli ngamakhromosomes aqukethe i-DNA, isicwangciso sendlela esisebenza ngayo. Ngamanye amaxesha, mhlawumbi ukufumana ingcamango engcono yendlela esisebenza ngayo okanye ukuxilonga izimo zonyango, umfanekiso, owaziwa njengekaryotype , uthathwa ngama-chromosomes ethu.

I-karyotype yindlela eqhelekileyo yokuhlaziya i- chromosomes yomntu . Inokuthi yenziwe nakweyiphi na isiswini somntu kodwa idlalwa rhoqo kwigazi, isikhumba, i-amniotic fluid, okanye i-chorionic villi. Amaseli athatyathwa kwibhuyibhile, ekhulile okanye ekhulile, afake iilayidi, ifotwe, kwaye ihlaziywe.

I-Karyotype Inokukuxelela Kanjani?

I-karyotype inokukuxelela ukuba mangaphi ama-chromosomes umntu analo kunye nesakhiwo somntu ngamnye we-chromosome. Ngenxa yokuba i-karyotype ikunika ulwazi malunga ne-chromosome nganye, inokukwazi ukukuxelela ngesondo somntu ngamnye. Ukuba ezimbini i-chromosomes zikhoyo, ngoko umntu ngumfazi. Ukuba i-X kunye ne-Y i-chromosome ikhoyo, ngoko umntu uyindoda.

Ngenxa yokuba i-karyotype inikeza ulwazi malunga nenani lala ma-chromosomes ekhona, lingakwazi ukuxilonga iimeko ezifana ne-Down syndrome-ubukho be-chromosome ye-21 engaphezulu (ama-chromosomes angama-47 ewonke, ngaphezu kwe-46). I-karyotype iphinda ibhekane nesakhiwo ngasinye se-chromosome, ngoko iyakwazi ukuba umntu uphethe iingxaki ze-chromosome ezinjenge- translocation okanye ukususwa.

(Amaphesenti angama-2 ukuya kuma-3 eengxaki ze-Down syndrome ngenxa yokufuduswa okubandakanya i-chromosome yenombolo yesi-21.)

I-Karyotype ihluke njani kwi-Analysis ye-FISH?

I-karyotype ihluke kwi- fluorescent in hybridization (FISH) uhlalutyo kuba lujonge kakhulu kuwo onke ama-chromosomes anakho umntu.

Uhlalutyo lwe-FISH lunikeza ulwazi oluncinane malunga nawo onke ama-chromosomes. Uvavanyo lwe-FISH luyakwazi ukubona i-trisomi-njenge-Down syndrome. Nangona kunjalo, akunakukunika ulwazi njengemifanekiso njengekaryotype. I-karyotype iya kubona ukungafani kwesakhiwo ezifana nokutshintshwa, ukususwa, ukufaka i-chromosomes kunye nabanye.

Iziphumo zeKaryotype zithatha ixesha elide ukuba zibuyiselwe kunokuba zihlalutyo lwe-FISH. I-karyotype eyenziwa kwiiseli zegazi ingathatha indawo ukusuka kwiintsuku ezintathu ukuya kwezixhenxe. I-karyotype kwi-amniocytes (iiseli ezivela kwi-amniocentesis) okanye kwi-chorionic villus isampula ingathabatha nanye ukusuka kwiintsuku ezili-10 ukuya kwe-14, kuxhomekeke ekukhawulezeni iiseli zikhula. Uhlalutyo lwe-FISH luya kubuya kwiintsuku ezintathu ukuya kwezine.

Ukukhetha Uhlobo lokuhlola olufanelekileyo

Ukuba ucinga ukuhlolwa kokubeleka okanye i-karyotype yezizathu zokuxilonga, kufuneka uxoxe ngoluphi uhlobo olufanelekileyo ngokufanelekileyo kwimeko yakho ethile. Ungaphinda ufune ukuxoxa nokuphanda nokuba ingaba-inshurensi iya kugubungela indleko yohlalutyo lwe-FISH kunye nekaryotype. Ukuba ukhulelwe ukukhulelwa okukhulu, ugqirha wakho unokuncoma uvavanyo lwe-FISH kunye nekaryotype, ukwenzela ukuba iziphumo zokuqala zifumaneke ngokukhawuleza. Iziphumo ezikhawulezayo zingafunwa ngabo baqhubela phambili xa bekhulelwe.

IINKONZO:

Ikholeji yase-American College of Obstetricians kunye neGynecologists (ACOG). Ukuhlola i-Fetal Chromosomal engafanelekiyo. I-ACOG Yenza i-Bulletin, inombolo 77, uJanuwari 2007.

I-National Human Genome Research Institute. I-Fluorescence In Hybridation Situation (I-FISH), ngo-2008.