KumiswaIsayensi

Population futhi indlela kwezibalo zocwaningo. Lokho wokucwaninga ngezakhi zofuzo indlela labantu-kwezibalo?

Amaphethini yefa zezici ezahlukene emzimbeni womuntu ihlola egatsheni wezinto eziphilayo - zofuzo lomuntu. Kuhlobene eduze kakhulu kuya izitho zomzimba, imithi, imvelo kanye yakhelwe ukuxazulula izinkinga bangabonwa futhi ekuhlonzweni ka pathologies, kubangelwa aberrations echibini isakhi sofuzo kwenani womuntu - chromosomal, zofuzo ukuguquka kwezakhi zofuzo ocwaningweni. Population and indlela kwezibalo ingenye ifomu kungase kutholakale kakhulu ukuthola futhi isibikezelo syndromes - izifo human ngofuzo, silitadishe futhi uzobe anikelwe lesi sihloko.

Izici Ezihilelekile Kule ndlela isicelo

Ufuzo Medical emsebenzini yayo yakhetha izinhlobo ezihlukene womuntu ucwaningo chromosome apharathasi, ukudweba idatha ye sciences ngqo, izibalo kanye imithi emtholampilo. Kuyinto akukho ngozi ngesisekelo ezincwadini labantu zofuzo nemithetho kwalo washayelwa ngosizo izingabunjalo. Population-kwezibalo indlela esetshenziswa hhayi kuphela ukubona kwezinso zofuzo, kodwa futhi ukucacisa imvamisa nesenzakalo zezakhi zofuzo ukufukamela lezi zinkinga njengoba isimo homozygous esikhubazayo, futhi (avamile), heterozygous ayizange ibonise ifomu phenotypic.

Umqondo labantu

Ukufaka uhlelo lwezibalo olunembe of ukusatshalaliswa izici ezithile lezinceku echibini isakhi sofuzo, zofuzo yakhetha nomqondo labantu. Yini izindlela kakhulu ngokufuna isayensi yesimanje silitadishe? Yiziphi izinto ezintathu ezibalulekile kakhulu:

1. indlela Population-kwezibalo.

2. nohlanga.

3. Twin.

Ngaphansi pool isakhi sofuzo baqonde genotypes wabo bonke abantu abaphilayo endaweni inikezwe. Lokhu kungaba labantu lonke izwe, isizwe esithile noma iqembu womuntu ophila ngokwanele ngedwa, isibonelo, izakhamuzi sigodi elahlekile ezintabeni Afghanistan noma isizwe ehlathini lase-Amazon.

Kwebalingisi genotypic sabantu ingena isethi zonke izakhi zofuzo kanye izimpawu zangaphandle abantu bayo. Population futhi indlela kwezibalo zocwaningo isicelo ekutadisheni kokubili kwezinso oqabukelayo nalabo ukuthi ube nohlobo abahlukene lozalo isibonisi.

Iqembu lokuqala kwenzeka ngenxa isimo teratogens. Elinye iqembu kuhlanganisa uhla lwezindawo anomalies, okuyinto basuke ehlelekile ezilotshwe ethile umndeni, isizwe, ubuzwe, isikhathi ngokwanele eside. Ngokwesibonelo, polydactyly, ubumpumputhe, hemophilia. Ukuze ukufunda mshini ukudluliswa sokugembula izici lezinceku ukulawula lezi zifo populjatsionno wasebenzisa indlela kwezibalo.

Izimo letitsintsa ukubukeka isifo nge yofuzo

Medicine imvelo multifactorial wazibonakalisa (kokubili zofuzo kwemvelo) pathologies ukuthi zibonakale ngezingxabano eziningi izizukulwane womuntu eziningana. ukuhlaziywa kwezakhi zofuzo nomfutho wegazi ophezulu, uhlobo mina sikashukela, isifuba somoya, ukusangana kanye nezinye izifo nge nezici ezithile lezinceku kudinga cwaningo ezinkulungwane pedigrees.

Ngo zofuzo esimweni ngasinye populjatsionno kwezibalo indlela uyakwazi ukubona ezingeni iqembu womuntu ukusabela umphumela yizici zemvelo (emisebeni microelement Ukwakheka amanzi okuphuza, isimo sezulu) ukuze athole ukuthi mingaki izakhi zofuzo ke kuchazwa.

Ingabe izifo human elihlobene ne heterogeneity zofuzo sabantu

Yeka ukuthi kungaba nemiphumela inika Luhlatiyo amaqembu ehlukene ezinhlanga abahlala izimo ezifanayo zemvelo? Kuhluke ekuphenduleni imiphakathi enjalo izici ezifanayo abiotic kuwubufakazi heterogeneity izakhi zabo zofuzo.

Clinical, umndeni kanye labantu indlela kwezibalo ngoba wokucwaninga ngezakhi zofuzo lomuntu luye lwabonisa ukuthi ezingeni ukubonakaliswa isifo emindenini ifaniswe imvamisa yayo nesenzakalo sabantu. Zisetshenziswa ekutadisheni zofuzo nezici ezithile rheumatism, komzimba, kanye izifundo zokwelapha sabantu ehlaselwe izifo multifactorial: yi-multiple sclerosis, i-Alzheimer, Autism.

ukulungisiswa Mathematical yefa

Ngaphambi kokucabangela le zofuzo ethile kwenani womuntu, sitadisha nohlaka yayo theory ethulwa ngesimo umthetho zezibalo. essence yayo imi kanje: Imvamisa genotypes ngokuvumelana yimiphi izakhi zofuzo ingabalwa usebenzisa kwesibalo sum isikwele sezinombolo ezimbili. Nokho, leli nani labantu kumele kube ngokwanele ezinkulu, ngeke kube zofuzo bayasithola kwemvelo amabutho khwelana zenzeka angesabi.

Ukusebenzisa indlela labantu-kwezibalo sokutadisha zofuzo lomuntu futhi imiphumela kokuma sokucindezeleka, kunendlela ukubikezela imvamisa yokukhuluma phenotypic ka izakhi zofuzo ezilimele, futhi amathuba kokuba ingane nge egunjini lokuhlolwa kwezifo.

Kanjani ukubala ematfuba isifo

Nasi isibonelo ilifa phenylketonuria - nezifo ngenxa yezakhi zofuzo, ogxile ukwabelana ukwephulwa acid ezibalulekile acid phenylalanine. Ngo imiphakathi izakhamuzi European normal isakhi sofuzo nesenzakalo imvamisa f 1: 10,000 iziguli homozygous esikhubazayo genotype ff.

Ukusebenzisa amakhono labantu-kwezibalo indlela, futhi izibalo, kungenzeka ukusetha ukuvama isakhi sofuzo ongaphilile. Kuyinto elilingana 0.01. Khona-ke ematfuba imfanelo uboniswe phenotype, kuyinto 0.99. Ngakho, abathwali a sakhi sofuzo esikhubazayo, iphethe genotype FF, bakha 0.02. Lokho, kulesi labantu cishe 2% wabantu baye abahlala genotype yabo sakhi sofuzo esikhubazayo ngoba phenylketonuria.

Njengoba sibona, indlela labantu-kwezibalo esetshenziswa ukubala imvamisa panmictic labantu izakhi zofuzo ezibangela ukubonakaliswa pathologies sitholwa njengefa.

Izici kwenani womuntu

Ukuvela impucuko womuntu, ukwakha taxon begazi, kungenziwa imelelwa ukuthuthukiswa kwemiphakathi ngamunye, isikhathi eside abahlala isimo izimo ezifanayo. Bahlanganisa imingcele efana climatogeographic, indlela eyodwa yokudla, Amagciwane ezivamile.

Konke lokhu kwaba nomthelela ukuhlanganiswa echibini isakhi sofuzo kwemiphakathi amaqembu alleles evamile futhi ngababili kusaqalwa anthropogenesis Wawugujelwani isenzo ezinhlobo lezinceku ukushintshashintsha futhi ukuzihlela nokuzivumelanisa kwemvelo.

Lokho wokucwaninga ngezakhi zofuzo sabantu nezindlela kwezibalo manje? Okokuqala, kungcono nomthelela okusha ngezakhi zofuzo zomuntu ophoqelelwe kwemihlambi imishado uhlobene eduze nani, ukucekelwa phansi kwayo. Baphila echibini isakhi sofuzo lwesintu baxinwe izakhi zofuzo okungafanele okubangelwa ukudalwa kokubonisana yezokwelapha-genetic inethiwekhi ebanzi yakhelwe ukuhlonza yofuzo ukuba ukubonakaliswa izifo ezihlukahlukene.

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