Abaphenyi baseYunivesithi yaseCalifornia, eSan Francisco naseSt.Jude Children's Research Hospital eTennessee baxazulule izimfihlakalo zezokwelapha emashumini eminyaka adlule, futhi bathola izinguquko ezimbili zofuzo ezingadala izifo zomndeni zegazi kanye ne-leukemia. Lolu cwaningo lususelwa ekuhlaziyweni kwe-DNA kwezelamani eziyi-16 emindenini emi-5, kukhomba ukuthi ezinye izingane ezinokushintshwa kwezakhi zofuzo kuzolulama ngokwazo, futhi kutholakale nezinye izimpawu zofuzo ezisiza odokotela ukuthi bagweme ukufakelwa umnkantsha ongahlaseli futhi oyingozi.
Izinkinga ezizungeze lesi sifo zingalandelwa emuva eminyakeni engaphezu kwengama-30 eyedlule, lapho udokotela we-oncologist uKevin Shannon, MD, waseYunivesithi yaseCalifornia, eSan Francisco, kanye nozakwabo behlangana nemindeni eminingana, eminingi yayo engaba nezibalo eziphansi zegazi (i-myelodysplastic engajwayelekile syndrome) Sign or MDS) kanye ne-acute myeloid leukemia (AML), umdlavuza wegazi onzima futhi obulalayo. Lezi ziguli zinelinye esikhundleni samakhophi amabili ajwayelekile we-chromosome 7, okuthiwa yi-chromosome eyodwa 7.
The data shows that mutations in the genes SAMD9 and SAMD9L located on chromosome 7 are closely related to single chromosome 7 syndrome, but many healthy siblings and patients’ parents also carry these mutations without any symptoms. Researchers have shown that patients who do have symptoms of MDS and AML also have a specific secondary gene mutation, which can drive a more serious disease, and patients without these additional mutations often never experience any symptoms and may develop blood. The count is low but most can recover on their own without treatment.
Izinguquko zofuzo ku-chromosome 7 zivame kakhulu ezigulini ezine-AML ne-MDS, futhi izicubu eziyingozi ze-chromosome eyodwa 7 zihlotshaniswa nokubikezela okungalungile futhi aziphenduli kahle ekwelashweni okukhona. Ngofuzo olungaphezulu kwama-860 ku-chromosome 7, kuzothakazelisa ukuqonda indima ye-SAMD9 ne-SAMD99L kuma-MDS angewona omndeni kanye ne-AML nokuthi ahlangana kanjani nezinye izakhi zofuzo ku-chromosome 7.
