Kayayyaki

An samo maye gurbi guda biyu a cikin kwayar cystathionine beta-synthase (CBS) a cikin 'yan'uwan Jafanawa guda biyu tare da pyridoxine wanda ba ya amsa homocystinuria wanda ke da matakan methionine daban-daban a cikin jininsu a lokacin jariri.Dukansu marasa lafiya sun kasance haɗin heterozygotes na ƙwayoyin cuta guda biyu: ɗayan yana da canjin A-to-G a nucleotide 194 (A194 G) wanda ya haifar da maye gurbin histidine-to-arginine a matsayi na 65 na furotin (H65R), yayin da ɗayan yana da G-to-A a nucleotide 346 (G346A) wanda ya haifar da maye gurbin glycine-to-arginine a matsayi na 116 na furotin (G116R).An bayyana sunadaran mutant guda biyu a cikin Escherichia coli daban-daban, kuma gaba ɗaya ba su da aikin motsa jiki.Duk da ainihin kwayoyin su da kusan daidai furotin, wadannan 'yan uwan ​​sun nuna matakai daban-daban a cikin jini da furotin, amma kuma ta Ayyukan sauran enzymes da ke cikin methionine da homocysteine ​​​​metabolism, musamman a lokacin jariri.Don haka, jarirai masu yawan haɗari waɗanda ke da 'yan'uwa masu ciwon homocystinuria, ko da matakin methionine a cikin jininsu ya zama al'ada a cikin gwajin jini na jarirai, ya kamata a bi shi a gano shi ta hanyar bincike na aikin enzyme ko nazarin kwayoyin halitta don a iya samun magani. fara da wuri-wuri don hana ci gaban bayyanar cututtuka na asibiti.Bugu da kari, ya kamata a samar da wata sabuwar hanya mai mahimmanci don tantance yawan rashi na CBS a cikin jarirai.