Maye gurbi na mutane. Chromosomal maye gurbi a cikin mutane

Maye gurbi mutane wakiltar canje-canje da suka faru a cikin wani cell a DNA matakin. Suna iya zama daban-daban. Maye gurbi mutane na iya zama tsaka tsaki. A wannan yanayin, akwai synonymous canzawa nucleoid. Canje-canje na iya zama cutarwa. Suna halin tsanani phenotypic sakamako. Har ila yau, mutane maye gurbi iya zama da amfani. A wannan yanayin, canje-canje da kananan phenotypic sakamako. Next, bari mu yi la'akari a cikin mafi daki-daki, yadda mutum maye gurbi. Misalai na canje-canje, za a ba a cikin labarin.

rarrabuwa

Gane daban-daban na maye gurbi. Wasu daga cikin Categories ne, bi da bi, da kansa rarrabuwa. A musamman, akwai da wadannan maye gurbi:

• Somatic.
• Chromosome.
• Cytoplasmic.
• Ilimin kwayoyin hali maye gurbi a cikin mutane da sauran jinsunan.

Canje-canje na faruwa a ƙarƙashin rinjayar daban-daban dalilai. Daya daga cikin mafi tsabta lokuta da irin canje-canje dauke nuclear. Maye gurbi na mutane bayan da bala'in ya fara bayyana nan da nan. Duk da haka, a kan lokaci da suka zama ƙara pronounced.

Human chromosomal maye gurbi

Wadannan canje-canje suna da halin tsarin munanan. A chromosome karya faruwa. Su suna tare da daban-daban rearrangements a cikin tsarin. Me yasa akwai mutum maye gurbi? Dalili shi ne a cikin waje dalilai:

• Jiki. Wadannan sun hada da gamma da X-haskoki, ultraviolet daukan hotuna, zazzabi (high / low), da electromagnetic filin, matsa lamba, da sauransu.
• Chemical. Wannan ya hada da alcohols, cytostatics, nauyi karfe salts, phenols da sauran mahadi.
• Halittu. Wadannan sun hada da kwayoyin cuta da ƙwayoyin cuta.

maras wata-wata sake fasalin kudin

Maye gurbi na mutane a cikin wannan hali ya taso ne a karkashin al'ada yanayi. Duk da haka, irin wannan canje-canje da ake samu a yanayin ne musamman rare: 1 miliyan kofe na wani musamman gene 1-100 lokuta. Scientist JBS Haldane lasafta da talakawan alama kwatsam gyara. Shi ne mai tsara 5 * 10-5. Yunkri ci gaban tsarin dogara a kan na waje da kuma na ciki dalilai - mutational matsa lamba matsakaici.

fasalin

Chromosomal maye gurbi ne mafi yawa classified a matsayin cutarwa. Pathologies cewa ci gaba a sakamakon reorganizations, sau da yawa m tare da rayuwa. Kamar yadda na asali halaye na chromosomal maye gurbi so mai haɗari gyara. Saboda su kafa mahara sabon "hadaka". Wadannan canje-canje suna reshaping da gene aiki, raba abubuwa a ko'ina cikin genome kwatsam. Su Na'urar darajar aka ƙaddara a zabin tsari.

Chromosomal maye gurbi: rarrabuwa

Akwai uku zaɓuɓɓuka saboda irin canje-canje. A musamman, ya zama ruwan dare iso, inter- da intrachromosomal maye gurbi. Last halin da munanan (aberatsiyami). Suna gano a cikin tsarin na guda chromosome. Wannan kungiyar canje-canje sun hada da:

• Deletions. Wadannan maye gurbi wakiltar ciki asarar ko dai karshen rabo daga chromosome. A sake fasalin kudin na wannan irin na iya haifar da wani yawa na anomalies a lokacin da amfrayo ci gaba (misali, nakasar zuciya lahani irin).
• Inversion. Wannan canji ya shafi juyawa daga wani chromosome gutsure zuwa 180 digiri. da kuma kafa shi a kan tsohon shafin. A wannan yanayin, domin na tsarin abubuwa ne karye, amma wannan ba zai tasiri a phenotype, idan akwai wani ƙarin dalilai.
• Duplications. Su wakiltar multiplication chromosome gutsure. Irin wannan sabawa daga na kullum tsokani mutum heritable maye gurbi.

Interchromosomal gyara (translocations) ana musayar tsakanin abubuwa na da rabo a cikin abin da kwayoyin halittu suke da kama. Wadannan canje-canje suna zuwa kashi:

• Robertsonian. An kafa maimakon biyu audio metacentric acrocentric chromosomes.
• Nonreciprocal. A wannan yanayin, da dabba ba a kanta rabo daga daya chromosome zuwa wani.
• Na juna. A karkashin wadannan rearrangements ana musayar tsakanin biyu abubuwa.

Izohromosomnye maye gurbi bayyana saboda da samuwar chromosomal kofe na madubi shafukan da sauran biyu, wanda dauke da wannan gene sets. Irin wannan sabawa daga na kullum ake magana centric fili anta da gaskiyar giciye chromatid rabuwa da ke faruwa da centromere.

The iri canje-canje

Akwai tsarin da kuma na lamba chromosomal maye gurbi. A karshen, bi da bi, ya kasu kashi aneuploidy (wannan bayyanar (trisomy) ko hasãra (monosomy) ƙarin abubuwa) da kuma polyploidy (cewa Musulunci karuwa a cikin lambobin). Tsarin reorganization gabatar inversions, deletions, translocations, insertions, kuma isochromosome centric zobba.

The hulda da daban-daban na rearrangements

Ilimin kwayoyin hali maye gurbi ne daban-daban canje-canje a cikin yawan tsarin abubuwa. Gene maye gurbi ne magudi a cikin tsarin da kwayoyin halittu. Chromosomal maye gurbi shafi tsarin da chromosomes kansu. Farko da kuma na karshe, bi da bi, da wannan rarrabuwa ta polyploidy da aneuploidy. Gyara mika mulki a tsakãninsu akwai wani Robertsonian translocation. Wadannan maye gurbi ake hada a irin wannan shugabanci, kuma manufar magani a matsayin "chromosomal abnormality". Yana hada da:

• Somatic Pathology. Wadannan sun hada da radiation Pathology, misali.
• Intrauterine cuta. Yana iya zama maras wata-wata abortions, rashin.
• Chromosomal cututtuka. Wadannan sun hada da Down ciwo, da sauransu.

A halin yanzu, game da ɗaya da ɗari da aka sani anomalies. Dukkan su sun yi karatu da kuma yadda aka bayyana. Kamar yadda aka nuna syndromes game da 300 siffofin.

Features na nakasar munanan

Hereditary maye gurbi an gabatar da fairly a baje. Wannan category ne halin da mahara lahani a ci gaba. Kafa a sakamakon keta da mafi muhimmanci canje-canje a cikin DNA. Raunuka faruwa a lokacin hadi, gamete maturation, da farko matakai na rabuwa da kwai. Rashin iya faruwa ko a lokacin da tattara abubuwa masu kyau daidai da lafiya iyayentaka Kwayoyin. Wannan tsari shi ne a yau har yanzu ba za a iya sarrafawa da kuma ba su kẽwaye da jarrabãwa.

A sakamakon canje-canje

Matsalolin chromosomal maye gurbi ayan zama sosai unfavorable ga mutum. Sau da yawa da suka tsokane:

• A 70% - maras wata-wata zubar da ciki.
• Malformations.
• A 7.2% - stillbirth.
• Da samuwar siffofin maruran.

Kan bango na matakin na chromosomal munanan raunuka a gabobin sa da daban-daban dalilai: da irin anomalies, wuce kima ko kasa kaya a cikin wani mutum chromosome, muhalli da yanayi, da genotype da kwayoyin.

pathologies kungiyoyin

All chromosomal cuta ya kasu kashi biyu Categories. Na farko shi ne take hakkin tsokani a cikin yawan abubuwa. Wadannan pathologies dokoki da girma da chromosomal cututtuka. Fãce trisomies, monosomy da sauran siffofin polysomes a cikin wannan kungiyar sun hada da tetraploidy da triploidy (a mutuwarsu auku ko dai a cikin mahaifa, ko kuma a farkon 'yan sa'o'i bayan haihuwa). Mafi sau da yawa gano Down ciwo. Yana dogara ne a kan kwayoyin lahani. Down ciwo ne mai suna bayan da sunan pediatrician, wanda aka bayyana shi a 1886. A halin yanzu, wannan ciwo ne mafi karatu na duk chromosomal munanan. Abnormality auku a game da daya daga 700. Na biyu kungiyar hada da cututtuka da lalacewa ta hanyar tsarin canje-canje a chromosomes. Da ãyõyin wadannan pathologies sun hada da:

• Girmancin retardation.
• Shafi tunanin mutum retardation.
• Roundness hanci.
• Deep ido saukowa.
• Zuciya lahani (nakasar) da sauransu.

Wasu cututtuka suna lalacewa ta hanyar wani canji a cikin yawan jima'i chromosomes. Marasa lafiya da irin wannan maye gurbi da babu zuriyarsa. Don kwanan wata, akwai wani fili ɓullo da etiological lura da irin cututtuka. Duk da haka, cutar za a iya hana ta wajen prenatal ganewar asali.

Aikin a cikin juyin halitta daga

Kan bango na pronounced canje-canje a cikin yanayi na da cutarwa maye gurbi iya zama da amfani. A sakamakon irin wannan gyara an dauke su abu don selection. Idan maye gurbi ba a shafi na "shiru" DNA, niƙaƙƙun gaɓãɓuwa ko ta tsokani da aka canza daya gutsure synonymous code, kamar yadda mai mulkin, shi ba ya bayyana kanta a kowane hanya a cikin phenotype. Duk da haka, irin wannan gyara za a iya gano. A saboda wannan dalili, hanyoyin da gene analysis. Saboda gaskiya cewa canje-canje faruwa saboda daukan hotuna zuwa halitta dalilai, sa'an nan, dauka cewa babban halaye na yanayi ya zauna canzawa, ta bayyana cewa maye gurbi bayyana kamar a akai mita. Wannan hujja za a iya amfani a cikin binciken na phylogeny - da bincike na kinship da kuma asalin daban-daban halittun, ciki har da mutumin. A dangane da wannan gyara a "shiru genes" nemawa masu bincike a matsayin "kwayoyin nan kowane lokaci." A ka'idar da aka ma kahu a kan gaskiyar cewa mafi yawan canje-canje ne tsaka tsaki. Su kudi na jari a wani musamman gene rarrauna ne ko alaƙa da rinjayar zabin yanayi. A sakamakon maye gurbin zama m kan dogon lokaci. Duk da haka, domin daban-daban genes tsanani zai mallaka.

a ƙarshe

A binciken da na inji na abin da ya faru, da kara raya kasa na rearrangements a mitochondrial deoxyribonucleic acid, wanda aka tuba zuwa zuriya ta hanyar da masu juna biyu line, kuma a cikin Y-chromosomes, haƙĩƙa, sun shige daga mahaifinsa, an yi amfani da ko'ina a yau isa a Juyin halitta. Tattara, bincikar kuma systematized kayan, bincika sakamakon da aka yi amfani da nazarin na asalin da daban-daban daga kasashe da kuma jinsi. Na musamman muhimmancin ne bayanai zuwa da maimaitawa na nazarin halittu samuwar da kuma ci gaban 'yan Adam.