Ososayensi bathi kukhona okungenani 79 "syndromes" ukukhuluphala

Uma kuziwa ukukhuluphala, kungcono kakhulu ukubuyeka kuyinkimbinkimbi kunalokho kubonakala efika kuqala. Ukubukeza omusha wocwaningo eCanada ebonisa ukuthi ukukhuluphala has amafomu okungenani 79 okwehlukile ehambisana izakhi zofuzo kubantu, futhi abaningi babo bangabantu ivelakancane.

Ukukhuluphala kubangelwa ukuhluleka ezakhini zofuzo

Nakuba yokuphila izinto ezifana ukudla futhi umsebenzi ngokomzimba ukudlala indima ebalulekile ukukhuluphala, ucwaningo luye lwabonisa ukuthi kukhona ufuzo ke. Ngakho-ke, isibuyekezo esisha, abacwaningi igxile izinhlobo ukukhuluphala, okungabangelwa ufuzo. Bayibuyekezile izifundo ezingaphezu kuka-160 ku-amafomu zofuzo nokukhuluphala. survey ngaphambili kuye kwabonisa ukuthi kukhona 20 kuya ku-30 izinhlobo ezahlukene ukukhuluphala - ababhali ukubhala.

Kodwa kule isibuyekezo esisha, abacwaningi baye bathola ingqikithi 79 "syndromes" zofuzo ukukhuluphala. Ngaphansi syndrome libhekisela izimo ukuthi zibangelwa izinguquko zofuzo ezibangela ukukhuluphala womuntu, phakathi kwezinye izimpawu. Ngokwesibonelo, omunye "syndromes" enjalo yokukhuluphala, kade okuyinto okwaziwayo izakhi zofuzo okuthiwa Prader-Willi syndrome. Ngokwenhlolo-vo eyenziwa, abantu yilesi sifo kungenzeka ukukhuluphala, ukubambezeleka zentuthuko, ama-hormone okukhula ukuntula, indlala ngokweqile, futhi avame ukuba ukudla ngokungavamile ngobuningi eyanele.

Ngokusho kwenye inhlolovo, le kwezinso yabo ekhubazeke engqondweni, ebusweni kanye nezinye izimpawu zingase zihlobane nezinye syndromes.

Ucwaningo uthi 43 syndromes 79 abakutholanga igama. Ngaphezu kwalokho, ososayensi bazimisele ngokuphelele zofuzo eziyisisekelo syndromes 19 kuphela. Ngakho, babika ukuqonda okungaphelele zofuzo eziyisisekelo, ngokusho kocwaningo. Nokho, abacwaningi bathola 22 syndrome, ososayensi ngaphambilini bengazi lutho nakanci.

"A kangcono izakhi zofuzo ezibangela lezi syndromes abakwazi kuphela ngcono izimpilo abantu abathintekayo kulezi ukuguquka kwezakhi zofuzo, kodwa futhi kusisiza ukuba siqonde kangcono ukuthi izakhi zofuzo kanye nama-molecule lebalulekile ukukhuluphala," - uthi umlobi oyinhloko Ukubuyekeza Devid Meyr, woprofesa izindlela zocwaningo lwezempilo ngesikhathi McMaster University e-Ontario, esitatimendeni.

Ngemiphumela yocwaningo ku twins

Ucwaningo kwenziwa amawele afana ncamashí luye lwabonisa ukuthi ukukhuluphala ngokweqile amaphesenti 40-75 incike izakhi zofuzo zesifo - abacwaningi kubika kulolu cwaningo, eshicilelwe ngo-March 27 ephephabhukwini Ukukhuluphala Izibuyekezo. It abacwaningi baye igxile izinhlobo ukukhuluphala okuhlotshaniswa isakhi esisodwa futhi imbangela syndromes (syndromes, nge ncazelo, zihlanganisa iqoqo izimpawu).

Abacwaningi waphawula ukuthi amanye amaqembu amabili zofuzo nokukhuluphala ngokweqile iziyaluyalu ezingafakwanga kulolu cwaningo: izinhlobo ukukhuluphala okuhlotshaniswa izakhi zofuzo eziningi, futhi labo abangabangane esakhini sofuzo esisodwa, kodwa hhayi imbangela syndromes.

nokudlanga

Ucwaningo ubhekiswe udaba kanjani common lezi zinhlobo ukukhuluphala, kodwa izilinganiso ezazitholakala kuphela ayi-12 kuwo. Ngempela, lezi syndromes ezingajwayelekile, ukwanda kwabo ngaphansi kuka-1 icala ngalinye abantu 1 million. Omunye iziyaluyalu, isibonelo, ngokuthi syndrome Ahlström, itholwe cishe umuntu oyedwa aphume 900, ngokusho National Library of Medicine.

Abalobi waphawula: baba nethemba lokuthi umsebenzi wabo uyokhulisa nekusebenta ucwaningo ku kunqunywa zofuzo nokukhuluphala ngokweqile syndromes.