Cov porphyrias ua li cas nthuav tawm kev nthuav dav, pleiotropy, thiab caj ces heterogeneity? … Lawv yog pleiotropic vim lawv muaj ntau dua ib cov tsos mob. Lawv yog cov genetic heterogeneic vim lawv muaj kev hloov pauv ntawm cov noob sib txawv hauv txoj kev porphyrin-heme.
Puas yog pleiotropy sib txawv ntawm kev nthuav qhia?
Pleiotropy yog tus mob uas ib qho kev hloov pauv ntawm noob caj noob ces muaj ntau qhov tshwm sim hauv ntau cov ntaub so ntswg. Txawm nyob hauv tib tsev neeg, ob tus neeg nqa tib lub noob caj noob ces yuav muaj cov kab mob sib txawv. Kev nthuav qhia yog txhais raws li qhov hnyav ntawm qhov phenotype.
Dab tsi ua rau kev nkag mus txawv txav?
Variable expressivity yog hais txog ntau yam ntawm cov cim qhia thiab cov tsos mob uas tuaj yeem tshwm sim hauv cov neeg sib txawv uas muaj tib yam caj ces. Raws li nrog txo kev nkag mus, qhov kev nthuav qhia txawv txav yog tshwm sim los ntawm kev sib xyaw ntawm caj ces, ib puag ncig, thiab kev ua neej nyob, feem ntau tsis tau txheeb xyuas.
Yuav ua li cas alleles pab txhawb phenotypic variation?
Alleles pab txhawb rau lub cev phenotype, uas yog sab nraud ntawm lub cev. … Qee cov alleles yog qhov tseem ceeb los yog qhov tsis zoo. Thaum ib lub cev muaj heterozygous ntawm ib qho chaw tshwj xeeb thiab nqa ib qho tseem ceeb thiab ib qho recessive allele, cov kab mob yuav nthuav tawm cov phenotype tseem ceeb.
Dab tsi yog qhov kev nkag mus thiab kev nthuav tawm ntawm cov noob?
Penetrance yog siv los piav qhiaseb puas muaj lossis tsis muaj kev kho mob qhia txog genotype hauv tus neeg. Kev nthuav qhia yog lo lus uas piav qhia qhov sib txawv ntawm kev soj ntsuam phenotype ntawm ob tus neeg uas muaj tib genotype.
