Mekhoa ea Lefa la Mafu a Liphatsa tsa Lefutso
Mafu a liphatsa tsa lefutso a ka utloisisoa ka saense e rarahaneng ea liphatsa tsa lefutso, e leng thuto ea kamoo litšobotsi le maemo li fetisetsoang kateng ho tloha molokong o mong ho ea ho o mong. Lefa la liphatsa tsa lefutso le latela mekhoa e itseng, e susumetsoang ke mabaka a fapaneng a kang mofuta oa lefutso le amehang, sebaka sa lona ho li-chromosome, le hore na litšobotsi lia busa kapa lia fokola. Sengoloa sena se hlahloba mekhoa ea mantlha ea lefa bakeng sa mafu a liphatsa tsa lefutso, se fana ka temohisiso ea hore na mafu ana a kenella joang melokong ea malapa le ho ama batho ka bomong ka tsela e fapaneng.
Lefa la Mendelian
Mekgwa ya motheo ya lefa la lefutso e hlalositswe ka lekgetlo la pele ke Gregor Mendel lekgolong la bo19 la dilemo ka mosebetsi wa hae ka dimela tsa dierekisi. Lefa la Mendelian le kenyeletsa dipaterone tse mmalwa tse ikgethang, haholo-holo autosomal dominant, autosomal recessive, X-linked dominant, le X-linked recessive.
Lefa la Autosomal Dominant
Lefa la autosomal dominant, kopi e le 'ngoe feela ea gene e fetotsoeng, e futsitsoeng ho motsoali ofe kapa ofe, e lekane ho baka lefu lena. Motho ea amehileng hangata o na le allele e le 'ngoe e tloaelehileng le allele e le 'ngoe e fetotsoeng. Mafu a latelang mokhoa ona a kenyelletsa lefu la Huntington le Marfan syndrome. Litšobotsi tsa lefa la autosomal dominant li kenyelletsa:
1. Phetiso e otlolohileng: Bothata bona bo atisa ho hlaha melokong e mengata.
2. Litlamorao tse Lekanang ho Bong ka Bobeli: Banna le basali ba ka ’na ba angoa ka ho lekana.
3. Monyetla oa 50% ka Boimana: Ngoana e mong le e mong oa motsoali ea amehileng o na le monyetla oa 50% oa ho futsa boemo bona.
Lefa la Autosomal Recessive
Ho lefa la autosomal recessive, likopi tse peli tsa gene e fetotsoeng (e le 'ngoe ho tsoa ho motsoali ka mong) lia hlokahala hore motho a bontše lefu lena. Batho ba nang le allele e le 'ngoe e tloaelehileng le e le 'ngoe e fetotsoeng ke bajari 'me hangata ha ba na matšoao. Mafu a kang cystic fibrosis le sickle cell anemia a oela sehlopheng sena. Likarolo tsa bohlokoa li kenyelletsa:
1. Phetiso e otlolohileng: Boemo bona hangata bo feta meloko mme bo ka hlaha hara bana ba motho.
2. Litlamorao tse Lekanang ho Bong ka Bobeli: Banna le basali ba ka ’na ba angoa ka ho lekana.
3. Monyetla oa 25% ka Boimana: Ha batsoali ka bobeli ba jara tšoaetso, ngoana e mong le e mong o na le monyetla oa 25% oa ho angoa ke eona.
Lefa le Laolang la X le Amanang
Lefa le busang le amanang le X le kenyelletsa liphetoho liphatseng tsa lefutso tse fumanehang ho chromosome ea X. Jini e le 'ngoe e fetotsoeng ho e 'ngoe ea li-chromosome tsa X e lekane ho baka bothata bona ho banna le basali, leha ts'usumetso hangata e le mpe haholo ho banna. Mehlala e kenyelletsa Rett syndrome le mefuta e meng ea li-ricket tse fokolang phosphate. Litšobotsi ke tsena:
1. Ha ho na Phetiso ho tloha ho Monna ho ea ho Monna: Bo-ntate ba ke ke ba fetisetsa bothata bona ho bara ba bona (kaha banna ba kenya chromosome ea Y ho bana ba banna).
2. E Ama Basali Haholo: Basali ba angoa hangata hobane ba na le li-chromosome tse peli tsa X 'me kahoo ba na le monyetla o moholo oa ho jara gene e fetotsoeng.
3. Bohloko bo Phahameng ho Banna: Banna, ba nang le chromosome e le 'ngoe feela ea X, ba ka hlahisa matšoao a matla haholo haeba ba futsitse phetoho ena.
Lefa le Amanang le X
Ho X-linked recessive inheritance, likopi tse peli tsa phetoho (e le 'ngoe ho chromosome e 'ngoe le e 'ngoe ea X ho basali) lia hlokahala hore basali ba amehe, athe kopi e le 'ngoe feela ea phetoho e hlokahala bakeng sa banna (ba nang le chromosome e le 'ngoe ea X) hore ba amehe. Hemophilia le Duchenne muscular dystrophy ke mehlala ea khale. Lintlha tsa bohlokoa li kenyelletsa:
1. Ha ho na phetiso ho tloha ho monna ho ea ho monna: Banna ba ke ke ba fetisetsa boemo bona ho bara ba bona.
2. E Ama Banna Haholo: Banna ba angoa hangata ke ka lebaka la ho ba le chromosome e le 'ngoe feela ea X.
3. Bo-'mè ba jarang liphatsa tsa lefutso: Basali ba jarang liphatsa tsa lefutso, ba nang le liphatsa tsa lefutso tse le 'ngoe tse fetotsoeng, ba na le monyetla oa 50% oa ho fetisetsa liphatsa tsa lefutso ho bara ba bona (bao ba tla ameha) le monyetla oa 50% oa ho fetisetsa liphatsa tsa lefutso ho barali ba bona (bao e tla ba bajari).
Lefa leo e seng la Mendelian
Hase mafu ohle a lefutso a latelang mekhoa ea Mendelian. Lefa leo e seng la Mendelian le kenyelletsa mekhoa e fapaneng e kang lefa la mitochondrial, lefa la multifactorial, le ho hatisoa ha genomic.
Lefa la Mitochondrial
Lefa la Mitochondrial, leo hape le tsejoang e le lefa la 'm'e, le kenyelletsa liphatsa tsa lefutso tse ho DNA ea mitochondrial, e futsoang ho 'm'e feela. Mafu a Mitochondrial hangata a ama tlhahiso ea matla 'me a ka lebisa maemong a kang lefu la Leber la letsoalo la optic neuropathy. Litšobotsi li kenyelletsa:
1. Lefa la Bo-mme: Banna le basali ba ka angoa, empa ke basali feela ba fetang DNA ea mitochondrial.
2. Ho Feto-fetoha ha Maikutlo: Bohloko ba matšoao bo ka fapana haholo hara batho ka bomong, esita le ka hara lelapa le le leng.
Lefa la Multifactorial
Lefa la lintho tse ngata le bolela maemo a bakoang ke motsoako oa mabaka a liphatsa tsa lefutso le a tikoloho. Mehlala e kenyelletsa lefu la pelo, lefu la tsoekere le mefuta e mengata ea kankere. Maemo ana ha a latele mekhoa e bonolo ea Mendelian 'me a bontša mekhoa e rarahaneng ea lefa e kang:
1. Litlamorao tsa Polygenic: Liphatsa tsa lefutso tse ngata li kenya letsoho kotsing ea ho ba le boemo bona.
2. Litšusumetso tsa Tikoloho: Likhetho tsa mokhoa oa bophelo le ho pepesehela tikoloho li susumetsa haholo ponahalo ea lefu lena.
3. Ho Kopanngoa ha Malapa: Maemo ana hangata a etsahala malapeng empa ha a latele mokhoa o hlakileng oa lefa o bonoang ka mathata a liphatsa tsa lefutso le le leng.
Ho Hatisa ka Genomic
Ho hatisoa ha liphatsa tsa lefutso ho kenyelletsa liphatsa tsa lefutso tse hlahisoang ka mokhoa o ikhethileng oa motsoali oa tšimoloho. Liphatsa tsa lefutso tse itseng li "hatisitsoe" kapa li tšoailoe ka lik'hemik'hale hore lia sebetsa ho latela hore na li futsitsoe ho 'm'ae kapa ntate. Mathata a kang Prader-Willi syndrome le Angelman syndrome a bakoa ke ho hatisoa ho sa lokelang. Lintlha tsa bohlokoa li kenyelletsa:
1. Litlamorao tsa Motsoali oa Tšimoloho: Ponahalo ea lefu lena e itšetlehile ka hore na liphatsa tsa lefutso tse fetotsoeng li futsitsoe ho 'm'ae kapa ho ntate.
2. Libaka tse Ikhethang tsa Liphatsa tsa Lefutso: Hangata khatiso e ama libaka tse itseng tsa li-chromosome tse itseng.
fihlela qeto e
Ho utloisisa mekhoa ea lefa bakeng sa mafu a liphatsa tsa lefutso ho bohlokoa bakeng sa boeletsi ba liphatsa tsa lefutso, tlhahlobo ea likotsi, le nts'etsopele ea mekhoa ea phekolo e reretsoeng. Leha lefa la Mendelian le fana ka moralo oa maemo a mangata a liphatsa tsa lefutso, ho bohlokoa ho lemoha ho rarahana ho hlahisitsoeng ke mekhoa e seng ea Mendelian. Mabaka a liphatsa tsa lefutso le a tikoloho ka bobeli a bapala karolo ponahalong ea mafu a liphatsa tsa lefutso, a hatisa tlhoko ea mekhoa e felletseng ea ho hlahloba le ho phekola. Ha lipatlisiso tsa liphatsa tsa lefutso li ntse li tsoela pele, mokhoa o rarahaneng oa mekhoa ea lefa o ntse o tsoela pele ho senoleha, o fana ka temohisiso e ncha le liphetho tse ntlafetseng bakeng sa ba anngoeng ke mafu a liphatsa tsa lefutso.
