Pejxeem thiab statistical txoj kev ntawm kev tshawb fawb. Tias txoj kev tshawb ntawm noob caj noob ces ntawm pejxeem-statistical txoj kev?

Qauv ntawm qub txeeg qub teg ntawm txawv zoo nyob rau hauv tib neeg lub cev txog cov ceg biology - tib neeg noob caj noob ces. Nws yog zoo txog rau lub physiology, tshuaj, cov ib puag ncig thiab yog tsim los daws tau qhov teeb meem ntawm kev nrhiav kom tau thiab thaum ntxov mob ntawm pathologies, tshwm sim los ntawm aberrations nyob rau hauv cov noob pas dej ua ke ntawm tib neeg coob - chromosomal, kev tshuaj ntsuam genetic thiab genomic change. Pejxeem thiab statistical txoj kev yog ib qho ntawm feem pov thawj hauv daim ntawv ntawm kev nrhiav kom tau thiab twv ua ntej ntawm syndromes - raws roj ntsha tib neeg cov kab mob, kawm nws thiab yuav tau mob siab rau qhov no tsab xov xwm.

Nta ntawm daim ntawv thov txoj kev

Medical noob caj noob ces nyob rau hauv nws cov hauj lwm resorted mus rau ntau yam ntaub ntawv ntawm tib neeg chromosome kev tshawb fawb apparatus, nqus cov ntaub ntawv ntawm lub caij nyoog sciences, statistics thiab soj ntsuam cov tshuaj. Nws yog tsis muaj kev huam yuaj hauv lub theoretical lub hauv paus ntawm cov pejxeem noob caj noob ces thiab nws cov kev cai tau formulated nrog kev pab los ntawm lej tsom xam. Pejxeem-statistical txoj kev yog siv tsis tau tsuas yog kom paub tias kev tshuaj ntsuam genetic txawv txav, tab sis kuj yuav txiav txim seb lub zaus ntawm tshwm sim ntawm noob cooj cov mob raws li ib tug homozygous recessive mob, thiab (ntau), heterozygous tsis paub qhov phenotypic daim ntawv.

Lub tswvyim ntawm pejxeem

Rau nruab cov zauv qauv ntawm muab faib rau tej roj ntsha zoo nyob rau hauv cov noob pas dej ua ke, noob caj noob ces resorted mus rau lub tswvyim ntawm tus tib neeg pejxeem. Yuav ua li cas txoj kev yog feem ntau nyob rau hauv coob los ntawm niaj hnub science kawm nws? Yuav ua li cas yog cov peb tseem ceeb tshaj plaws:

1. Pejxeem-statistical txoj kev.

2. genealogical.

3. Twin.

Nyob rau hauv cov noob pas dej ua ke to taub genotypes ntawm tag nrho cov neeg nyob rau hauv ib tug muab qhov chaw. Qhov no tej zaum yuav cov pej xeem ntawm ib tug tag nrho lub teb chaws, ib tug lub teb chaws los yog tib neeg pab pawg neeg uas nyob txaus nyob rau hauv kev rho tawm, piv txwv li, cov neeg nyob ntawm lub zos poob lawm nyob rau hauv lub roob ntawm Afghanistan los yog cov pab pawg neeg nyob rau hauv lub Amazon lub zoov nuj txeeg.

Lub genotypic characterization ntawm cov pejxeem nkag mus rau lub teeb ntawm tag nrho cov noob thiab lwm yam tshwm sim ntawm nws cov neeg. Pejxeem thiab statistical txoj kev ntawm kev tshawb fawb ntaub ntawv rau txoj kev tshawb no ntawm ob thawm txawv txav thiab cov neeg uas muaj ib cov genealogical daim ntawv ntawm cov zaub.

Cov thawj pab pawg neeg no tshwm sim raws li ib tug tshwm sim ntawm situational teratogens. Cov lwm pab lwm pawg muaj xws li ib tug uas nws kim heev daim ntawv teev cov anomalies, uas yog systematically kaw nyob rau hauv ib tug tsev neeg, lub teb chaws, haiv neeg, rau ib tug txaus lub sij hawm ntev ntawm lub sij hawm. Piv txwv li, polydactyly, dig muag, hemophilia. Yuav kom kawm mechanism ntawm kis tau tus mob ntawm pathological raws roj ntsha sijhawm tswj cov kab mob populjatsionno siv statistical txoj kev.

Yam rau cov tsos ntawm tus kab mob nrog kev tshuaj ntsuam genetic predisposition

Tshuaj multifactorial xwm muaj pov thawj (ob tshuaj ntsuam genetic thiab ib puag ncig) pathologies uas manifest lawv tus kheej nyob rau hauv ib tug xov tooj ntawm ob peb tib neeg tiam. Caj tsom xam ntawm tawg, ntaus kuv mob ntshav qab zib, mob hawb pob, schizophrenia thiab lwm yam kab mob nrog raws roj ntsha predisposition yuav tsum tau ib txoj kev kawm ntawm txhiab ntawm pedigrees.

Nyob rau hauv txhua rooj plaub populjatsionno statistical noob caj noob ces txoj kev muaj peev xwm mus ntes cov theem ntawm tib neeg pab pawg neeg tshua ntawm cov nyhuv ntawm ib puag ncig yam tseem ceeb (tawg microelement muaj pes tsawg leeg ntawm cov dej haus, kev nyab xeeb) thiab txiav txim seb yuav ua li cas muaj ntau yam noob nws yog txhais.

Yog tib neeg cov kab mob txuam nrog kev tshuaj ntsuam genetic heterogeneity ntawm cov pejxeem

Yuav ua li cas tau muab ib tug sib piv tsom xam ntawm qhov sib txawv pawg haiv neeg nyob rau hauv tib lub tej yam kev mob? Txawv nyob rau hauv cov lus teb rau tej neeg uas zoo sib xws abiotic yam yog cov ntawv pov thawj ntawm lawv cov caj heterogeneity.

Soj ntsuam, tsev neeg thiab cov pejxeem statistical txoj kev rau txoj kev tshawb no ntawm tib neeg noob caj noob ces pom tau tias cov theem ntawm manifestation ntawm tus kab mob nyob rau hauv tsev neeg yog piv rau nws cov zaus ntawm tshwm sim nyob rau hauv cov pejxeem. Lawv yog siv nyob rau hauv txoj kev tshawb no ntawm caj predisposition rheumatism, ua xua, raws li zoo raws li nyob rau hauv kev tshawb fawb ntawm cov pejxeem cuam tshuam los ntawm multifactorial kab mob: ntau yam sclerosis, tsis nco qab, tsi txawj has lug.

Lej ua neeg ncajncees ntawm qub txeeg qub teg

Ua ntej xav tias cov noob caj noob ces ntawm tib neeg coob, peb kawm cov theoretical lub moj khaum nyob rau hauv daim ntawv ntawm ib tug zauv txoj cai. Nws essence yog raws li nram no: Tus zaus ntawm genotypes raws li ib yam ntawm cov noob yuav tsum xam siv cov kab zauv ntawm lub square sum ntawm ob tug zauv. Txawm li cas los, qhov no cov pejxeem yuav tsum txaus loj, nws yuav ua tsis tau kev tshuaj ntsuam genetic drift thiab natural xaiv rog thiab pos tshwm sim nthawv.

Thov pejxeem-statistical txoj kev rau kev kawm tib neeg noob caj noob ces thiab cov kev tshwm sim ntawm kev soj ntsuam pom, nws tseem tau mus twv seb lub zaus ntawm phenotypic qhia ntawm puas noob, thiab yuav ua rau muaj muaj ib tug me nyuam nrog ib tug pathology.

Yuav ua li cas los xam qhov tshwm sim ntawm tus kab mob

Ntawm no yog ib qho piv txwv ntawm qub txeeg qub teg ntawm phenylketonuria - genetic cov kab mob, uas yog raws li nyob rau hauv ib tug sib koom ua txhaum tseem ceeb cov amino acid phenylalanine. Nyob rau hauv coob ntawm European pej xeem txawv txav noob tshwm sim zaus f yog 1: 10,000 cov neeg mob yog homozygous recessive genotype txiav.

Siv lub peevxwm pejxeem-statistical txoj kev, thiab zauv, nws tseem tau mus teem lub zaus ntawm txawv txav noob. Nws yog sib npaug zos rau 0.01. Ces qhov yuav tshwm ntawm kev zoo losis phem qhia nyob rau hauv lub phenotype, yog 0.99. Li no, cov muaj ib tug recessive noob, muaj lub genotype txiav, roos 0,02. Uas yog, nyob rau hauv no cov pejxeem kwv yees li 2% ntawm cov neeg tau nyob rau hauv lawv cov genotype recessive noob rau phenylketonuria.

Raws li peb pom, cov pejxeem-statistical txoj kev siv los mus laij lub zaus panmictic pejxeem noob lub luag hauj lwm rau kev qhia tawm ntawm raws roj ntsha pathologies.

Nta ntawm tib neeg coob

Cov evolution ntawm tib neeg kev vam meej, txoj kev ua ib lom taxon, yuav muaj tuaj raws li cov kev loj hlob ntawm ib tug neeg zej zog, ib tug ntev lub sij hawm ntawm lub sij hawm nyob rau hauv ib qho chaw zoo xws li cov tej yam kev mob. Lawv muaj xws li xws li cov climatogeographic tsis, muaj ib zaug xwb txoj kev ntawm kev noj mov, cov pathogens.

Tag nrho cov no pab mus rau consolidation nyob rau hauv cov noob pas dej ua ke ntawm coob ntawm pawg ntawm tej alleles thiab officers nyob rau hauv thaum ntxov ua sawv ntawm anthropogenesis yog lub hauv paus rau qhov kev txiav txim ntawm roj ntsha hom variation thiab natural xaiv.

Tias txoj kev tshawb ntawm noob caj noob ces ntawm cov pej xeem thiab statistical txoj kev tam sim no? Ua ntej ntawm tag nrho cov, nws yog ntxim rau cov tib neeg genome yuam kev rho tawm ntawm zoo txog kev sib yuav, tej degradation. Lawv coj mus rau lub noob pas dej ua ke ntawm tib neeg tiv kev txom nyem los ntawm kev txawv txav noob thiab tshwm sim los ntawm creation ntawm kev kho mob-caj kev sib tham ntawm ib tug dav network tsim los qhia kev tshuaj ntsuam genetic predisposition mus rau lub manifestation ntawm ntau yam kab mob.