Yini ebangela izifo zofuzo umuntu

nezifo ngenxa yezakhi zofuzo zihlanganisa iqembu elikhulu izifo okuyinto kuphakama kusukela izinguquko kwezakhi zofuzo. Ake sithole ukuthi kwakungani yiziphi izimbangela yalezi pathologies.

Gene izifo wobuntu anesizotha kubangelwa ukuguquka kwezakhi zofuzo ezakhini zofuzo kwesakhiwo, okuyinto afeze umsebenzi wabo ngokusebenzisa ukuhlanganiswa kwezici polypeptides, ngamanye amagama - amaprotheni. Noma yimuphi kuguquka isakhi sofuzo imayelana nani izinguquko isakhiwo noma inani amaprotheni.

Izifo ezihlala kuqale ukusebenza eyinhloko allele asabekayo. Uma omunye ezama schematically zibonisa zofuzo umuntu, ekuqaleni khona allele asabekayo, okuyinto agelezela Ushintshe umkhiqizo oyinhloko, okuholela yeseli sihamba uchungechunge izinqubo kwamakhemikhali, okuholela okuholela izinguquko kwezitho nezicubu zomzimba, bese wonke umzimba.

Uma ucabangela isifo esidluliselwa ngofuzo ezingeni yamangqamuzana, lezi ezahlukeneyo bungabonakala:

- ukukhiqizwa isamba ngokweqile umkhiqizo isakhi sofuzo,

- ukuhlanganiswa kwezici i amaprotheni normal

- ukuntuleka ukukhiqizwa,

- kanye ukukhiqizwa inani ukuncipha umkhiqizo eyinhloko.

isifo esidluliselwa ngofuzo akugcini ezingeni yamangqamuzana ezinto eziphilayo. pathogenesis yabo iyaqhubeka ukuthuthukisa emangqamuzaneni. Kule ndaba kufanele kuphawulwe ukuthi iphuzu kwesicelo isakhi sofuzo lushintshwe izifo ezihlukahlukene kungaba kokubili imitimba bebonke, futhi ehlukile izakhiwo amaselula ezifana ulwelwesi, peroxisomes, lysosomes, mitochondria.

Isici esibalulekile salo kwezinso zofuzo ukuthi kubonakaliswa zabo emitholampilo, kanye izinga nobukhali ukuthuthukiswa likalwa ezingeni ezingeni genotype umzimba, izimo zemvelo, ubudala isiguli, nokunye okunjalo.

Isici sici heterogeneity izakhi zofuzo pathologies. Lokhu sisikisela ukuthi inkulumo ethi phenotypic lesi sifo kungenzeka kubangelwa ukuguquka kwezakhi zofuzo ahlukene ezenzeka ngaphakathi isakhi esisodwa noma zofuzo ezahlukene. Lokhu lamiswa ngo-1934 yi-umcwaningi odumile emkhakheni wokusebenza kwezakhi zofuzo S.N.Davidenkovym.

Njengoba yamafomu monogenic ka kwezinso zofuzo, ngokuvumelana nemithetho Mendel, zizuzwe. Ngakwelinye ihlangothi, amafomu monogenic ingahlukaniswa ngohlobo ifa, okungukuthi autosomal esikhubazayo, autosomal evelele, futhi kuhambisana Y- noma X-chromosome.

Zonke isifo esidluliselwa ngofuzo kungenziwa labizwa ngenombolo izimfanelo, futhi iqembu elikhulu kuleli cala uzobe ngofuzo izifo umzimba. Cishe bonke yilunga autosomal ngendlela esikhubazayo. Imbangela mibandela sokugembula ukungabi enzyme ethile okuyinto obangela zamagama amino acid. Lezi zihlanganisa izifo ezifana phenylketonuria, albino amehlo cutaneous futhi homogentisuria.

Iqembu elilandelayo elikhulu nezifo ngenxa yezakhi zofuzo ezihambisana iziyaluyalu umzimba. isifo Glycogen, galactosemia - izibonelo fanele kuze lo xuku.

Kulandele izifo ukuthi zihlobene ngokuqondile lipid umzimba - okungukuthi isifo Gaucher, isifo Niemann Khetha nokunye okunjalo.

sifo sofuzo abantu, ngaphandle kwalabo sekushiwo, ihlukaniswa

- izifo lezinceku we pyrimidine futhi purine umzimba,

- pathologies ezihambisana ne zezinzwa izicubu neziyaluyalu,

- iziyaluyalu ngofuzo amaprotheni afundwa,

- izifo lokufaneleka ngqo umzimba iziyaluyalu e erythrocyte,

- lezinceku zokugula izinsimbi exchange,

- futhi syndromes ezibangela malabsorption izinqubo isimiso sokugaya ukudla bungene.

Ngaphezu okungenhla siye sinezele ukuthi ukusungulwa ubunjalo lezinceku isifo kusekelwe indlela emitholampilo ngokwezinhlu zozalo.