Gene maye gurbi

Gene maye gurbi - cewa shi ne dalilin da yake da samuwar wani iri-irin kungiyar da na asibiti manifestations da cutar, da ake kira "kwayoyin cuta". A] aukacin mita na su aukuwa a cikin adam yawan ta biyu zuwa hudu cikin dari.

Change (maye gurbi) gene aka sa ci gaban da yawa siffofin hereditary cututtuka factor. A zamani magani, ya bayyana fiye da dubu uku daga wadannan pathologies. Mafi na kowa bayyanuwar da cuta ne fermentopathy. An yi imani da cewa gene maye gurbi iya shafar fetal, kai da kuma tsarin sunadarai. Pathological canje-canje za a iya aiwatar a daban-daban lokaci na ontogenesis (ci gaba). Su hankula ga mafi yawan intrauterine (har zuwa 25% na hereditary pathologies) da kuma dopubertatnogo (kafin balaga) lokacin (game da 45%). Gene maye gurbi faruwa a samartaka (mafarki) da kuma na yara lokaci (game da 25%). In mun gwada bai isa a kula adadin (game da 10%) raunuka gano a shekara ashirin.

Kwayoyin cututtuka suna classified bisa ga gado da irin (autosomal recessive, autosomal rinjaye da sauransu), dangane da sashin jiki ko tsarin, mafi shiga a cikin pathological tsari (endocrine, neuromuscular, ocular, da dai sauransu), dangane da yanayin da na rayuwa aibi (hade da cuta na carbohydrate, ma'adinai da kuma sauran sia metabolism.). Domin zaman kanta kungiyar hada da cututtuka tasowa a kan wani bango na fetal da kuma masu juna biyu incompatibility na antigens a cikin jini kungiyoyin.

Jawo da germline maye gurbi, sun gaji cuta daidai da dokokin na Mendel. Zai yiwu fitowan da sabon ci gaban ko gada daga baya ƙarnõni canza. A irin haka ne, pathological Tsarin an rarraba a duk jikin Kwayoyin.

Gene maye gurbi na iya faruwa a daya daga cikin sel a matakai daban-daban na crushing da zygote. A irin haka ne, jiki ya zama mosaic ga tsarin. A wasu kalmomi, a cikin wasu Kwayoyin aiki al'ada allele (form na gene), da kuma a wasu - mutant. Dominance maye gurbi bayyana phenotypically (asibiti ãyõyi) a cikin Game da Kwayoyin da tsokani da ci gaban da cutar. A lokaci guda akwai wani isasshen alama na kasa mai tsanani cuta, kamar yadda sun yi tsayayya da cikakken rikidaddu.

Masana sun rarraba canje-canje a cikin aikin da kuma tsarin.

Tsarin gene maye gurbi subdivided cikin miƙa mulki - maye daya purine tushe (kwayoyin fili na halitta Kalam, purine) zuwa wani, ko daya pyrimidine tushe (kwayoyin mahadi - pyrimidine Kalam) da wani pyrimidine tushe. cikinsa a codon (kayyade code naúrar) ya musanya daya kawai a cikin abin da canzawa faru. Akwai kuma irin wannan abu a matsayin "transversion". A wannan yanayin akwai wani canji na purine ko pyrimidine sansanonin mataimakin versa. Wannan ya canza matsayin codon wanda idan sauyawa. Bugu da ƙari, akwai wani frameshift maye gurbi. Kamar wancan akwai wani hasãra (shafewa) ko sa (sa) na daya ko dama nucleotide nau'i-nau'i. A daidai da asara ko da sa rabo iya bambanta mafi ko kadan codons.

Maye gurbi a cikin kwayoyin halittu suke aikin canji a cikin wadanda ba a rubuce (tsarinsa) wani ɓangare na wani jigidar halittar DNA. Wannan tsokani wani cuta na da tsari na aiki da tsarin abubuwa. Wannan na iya haifar da karuwa ko karu a cikin kudi na kira na daidai gina jiki ga sãɓãwar launukansa digiri.