Izifo ezithathelwanayo zofuzo - umqondo unemibandela kakhulu, ngoba lesi sifo singenakwenzeka kunoma yisiphi isifunda, futhi kwenye indawo yezwe sithinta kakhulu ingxenye enkulu yabantu.
Ukuhlonza izifo zofuzo
Izifo ezithintekayo azivuki ngosuku lokuqala lokuphila, zingazibonakalisa kuphela ngemva kweminyaka embalwa. Ngakho-ke, kubalulekile ukwenza ukuhlaziywa ngesikhathi esifanele izifo zomuntu zofuzo, ukufezeka kokubili kokubili ngesikhathi sokukhulelwa nokukhulelwa komntwana. Kunezindlela eziningi zokuxilonga:
- I-biochemical. Ivumela ukunquma ukuba khona kweqembu lezifo ezihlotshaniswa nezifo eziphathelene nokufa komzimba. Le ndlela ihlanganisa ukuhlaziywa kwegazi lomzimba wezifo zofuzo, kanye nokufunda okulinganayo nokulinganisa kwamanye amachiza omzimba.
- I-Cytogenetic. Isebenza ukuthola izifo ezivela ngenxa yokukhathazeka ekuhlelweni kwama-chromosomes weseli.
- I-molecular-cytogenetic. Yindlela ephelele kakhulu uma kuqhathaniswa neyaphambilini futhi ivumela ukuxilonga ngisho nezinguquko ezincane esakhiweni nasekulungisweni kwama-chromosomes.
- I-syndromological . I-symptomatology yezifo ze-genetic ivame ukuhambisana nezibonakaliso zezinye izifo ezingezona izifo. Okuyinhloko yale ndlela yokuxilonga ukuhlukanisa kusukela kulo lonke uchungechunge lwezibonakaliso ikakhulukazi lezo ezibonisa isifo se-inherited disease. Lokhu kwenziwa ngosizo lwezinhlelo ezikhethekile zekhompyutha nokuhlolwa ngokucophelela nge-geneticist.
- I-molecular-genetic. Indlela yesimanje kakhulu futhi ethembekile. Ikuvumela ukuba uhlole i-DNA yomuntu ne-RNA, ukuthola ngisho nezinguquko ezincane, kuhlanganise nokulandelana kwama-nucleotide. Isetshenziselwa ukuxilonga izifo ze-monogenic kanye nezinguquko.
- Ukuhlolwa kwe-Ultrasound:
- izitho zangasese - ukunquma izifo zesimiso sokuzala kubesifazane, izimbangela zokungabikho;
- ukuthuthukiswa komntwana - ukuhlolisiswa kwezinkinga zokuzalwa ezingenangqondo kanye nokutholakala kwezifo ezithile ze-chromosomal.
Ukwelashwa kwezifo zofuzo
Ukwelashwa kwenziwa ngezindlela ezintathu:
- Isibalo. Akuqedi imbangela yalesi sifo, kodwa kususa izimpawu ezibuhlungu futhi kuvimbela ukuqhubekela phambili kwesifo.
- Aetiological. Lokhu kuthinta ngokuqondile izimbangela zesifo ngosizo lwezindlela zokulungiswa kwezakhi zofuzo.
- I-Pathogenetic. Isetshenziselwa ukuguqula izinqubo zomzimba neziphilayo emzimbeni.
Izinhlobo zezifo zofuzo
Izifo ezizalwa njengezifo ezifuywayo zihlukaniswe ngamaqembu amathathu:
- Ama-Chromosomal aberrations.
- Izifo ze-monogenic.
- Izifo ze-Polygenic.
Kumele kuqashelwe ukuthi izifo zokubeletha azizona ezesifo sezifo. Ngokuvamile, zivela emonakalweni womshini ku-fetus noma izilonda ezithathelwanayo.
Uhlu lwezifo zofuzo
Izifo ezithandwa kakhulu:
- i-hemophilia;
- ubumpumputhe bombala;
- I-Down syndrome;
- i-cystic fibrosis;
- i-spina bifida;
- Isifo se-Canavan;
- i-leucodystrophy i-Pelitseus-Merzbacher;
- i-neurofibromatosis;
- I-Angelmann's syndrome;
- Isifo seThea-Sachs;
- Isifo sikaCharcot-Marie;
- I-Joubert's syndrome;
- I-Prader-Willi syndrome;
- I-Turner syndrome;
- Isifo sika-Klinefelter;
- phenylketonuria.
Izifo ze-genetic ezingavamile kakhulu:
- ukungaziphathi kahle kwe-Capgrass;
- isifo sesidumbu esiphilayo;
- i-lata;
- I-Klein-Levin syndrome;
- ukuqhubeka;
- isifo sezindlovu;
- ukubukeka okubukhali;
- i-micropsy;
- i-cicero;
- I-Stendhal's syndrome;
- isifo sekhanda lokuqhuma;
- I-Roben's syndrome.
Izifo zesikhumba ezijwayelekile zaso:
- i-porphyria;
- umugqa we-Blashko;
- i-skin skin syndrome;
- i-hypertrichosis;
- Isifo sikaGünther.