Ho fumana Karyotype bakeng sa Down Syndrome

Karyotype ea li-chromosome tsa hao e ka lemoha ntho leha e le efe e bohloko

Karolong e 'ngoe le e' ngoe e phelang, ho tloha ho batho ho ea ho limela, ke lihlopha tse nyenyane tsa kaho tse tsejoang e le lisele. Lisele tsena li fapane ka mefuta e meng le ka hare ho motho ka mong, phoofolo kapa semela ka boeona. Lisele tsena li na le li-chromosome tse nang le DNA, setšoantšo sa hore na re sebetsa joang. Ka linako tse ling, e le hore re fumane maikutlo a molemo a hore na re sebetsana joang kapa re hlahloba boemo ba bongaka, setšoantšo, se tsejoang e le karyotype , se nkiloe ka li-chromosome tsa rona.

Karyotype ke mokhoa o tloaelehileng ka ho fetisisa oa ho hlahloba li-chromosome tsa motho. E ka etsoa meleng ea motho leha e le ofe empa e atisa ho etsoa mali, letlalo, amniotic fluid kapa chorionic villi. Lisele li isoa ho laborateng, tse hōlileng kapa tse hlahisitsoeng, li apara li-slides, li li nka lifoto ebile li hlahlojoa.

Karyotype e ka U Bolella'ng?

Karyotype e ka u bolella hore na ke li-chromosome tse kae tseo motho a nang le tsona hammoho le sebōpeho sa kromosome ka 'ngoe. Hobane karyotype e fana ka tlhahisoleseding e mabapi le chromosome e 'ngoe le e' ngoe, e ka boela ea u bolella thobalano ea motho ka mong. Haeba ho na le li-chromosome tsa X tse peli, joale motho ka mong ke mosali. Haeba ho na le X le Y chromosome, joale motho ke monna.

Hobane karyotype e fana ka tlhahisoleseding e mabapi le palo ea li-chromosome e teng hona joale, e ka hlahloba maemo a kang Down syndrome - boteng ba kromosome ea nomoro e eketsehileng ea 21 (li-chromosome tse 47 ka kakaretso, ho e-na le 46). Karyotype e boetse e sheba sebopeho sa chromosome e 'ngoe le e' ngoe, kahoo e ka bolela hore motho o na le mathata a mochine oa chromosome joaloka translocation kapa ho tlosoa.

(Karolo ea 2 ho isa ho 3 lekholong ea linyeoe tsa Down syndrome li bakoa ke translocation e amanang le chromosome ea palo ea 21.)

Karyotype e Fapane Joang le Tlhahlobo ea FISH?

Karyotype e fapana le tlhahlobo ea fluorescent in hybridization (FISH) ka hore e shebahala haholo ka li-chromosome tsohle tseo motho a nang le tsona.

Tlhahlobo ea tlhapi eu fa leseli le tlaase ka li-chromosome tsohle. Ho hlahlojoa ha litlhapi ho ka khetholla lintho tse bohloko - joaloka Down syndrome. Leha ho le joalo, e ke ke ea u fa e le tsebo ea setšoantšo joalokaha karyotype e ka khona. Karyotype e tla boela e lemohe phapang ea moralo e kang ho fetisetsa, ho tlosoa, ho sebelisa li-chromosome tse kenyang, le tse ling.

Liphetho tsa Karyotype li nka nako e telele ho khutla ho feta tsa tlhahlobo ea tlhapi. Karyotype e entsoeng ka lisele tsa mali e ka nka kae kapa kae ho tloha matsatsing a mararo ho isa ho a supileng. Karyotype ka amniocytes (liseleng tse tsoang ho amniocentesis) kapa ho tloha ho sriling ea chorionic villus e ka nka kae kapa kae ho tloha matsatsing a 10 ho ea ho a 14, ho itšetlehile ka hore na lisele li hōla ka potlako hakae. Tlhahlobo ea tlhaho e tla khutla matsatsing a mararo ho isa ho a mane.

Ho Khetha Tlhahlobo e Loketseng ea Tlhahlobo

Haeba u ntse u nahanisisa ka liteko tsa bokhachane kapa karyotype bakeng sa mabaka a ho hlahloba, u lokela ho bua hore na ke kgetho efe e loketseng bakeng sa boemo ba hau bo khethehileng. U ka boela ua batla ho buisana le ho etsa lipatlisiso hore na inshorense e tla lefella litšenyehelo tsa tlhahlobo ea tlhaho le karyotype kapa che. Haeba o na le bokhachane bo kotsing haholo, ngaka ea hau e ka 'na ea khothaletsa tlhahlobo ea FISH hammoho le karyotype, e le hore liphetho tsa pele li fumanoe kapele. Liphello tse potlakileng li ka 'na tsa lakatsoa ke ba tsoelang pele nakong ea bokhachane.

SOURCES:

Koleji ea Amerika ea Bo-rasaense le ba Gynecologists (ACOG). Ho shebella sekheo sa Fetal Chromosomal. ACOG Practice Bulletin, nomoro ea 77, ka 2007.

Institute of National Human Genome Research. Fluorescence In Situation Hybridization (FISH), 2008.