International immunopharmacology · 2025
Double heterozygous RhAG mutations causing regulator-type Rhnull phenotype.
СтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Li Wangxia, Cai Junchao, Huang Xian, Shen Gang, Zhu Yuanyan, Qu Zhen, He Mingdi, Zou Jie, Zhang Ming, Xu Ruyi, Xia Jiaan, Lu Huaxin
Аннотация
BACKGROUND: Rhnull is the rarest blood type worldwide; its scarcity makes compatible blood almost unobtainable once alloantibodies arise.
OBJECTIVE: To define the genetic basis of regulator-type Rhnull in a healthy blood donor and translate the findings into transfusion guidance.
METHODS: Serology, Sanger and long-read sequencing of RhD, RhCE and RhAG were performed in the donor and his family.
RESULTS: The donor displayed Rhnull with normal RhD/CE genes but compound-heterozygous RhAG mutations: c.419 A > C (p.Gln140Arg, novel) and c.1108G > A (p.Gly370Arg). Father and son carry only c.419 A > C and have standard DCCee phenotypes, confirming recessive null inheritance. In-silico and structural modeling predict both substitutions disrupt RhAG-RhCE assembly.
CONCLUSION: We identify a new RhAG allele that abolishes Rh expression and is readily transmitted. Early autologous blood storage and extended RhAG genotyping are recommended for these ultra-rare individuals to avert future transfusion crises.
OBJECTIVE: To define the genetic basis of regulator-type Rhnull in a healthy blood donor and translate the findings into transfusion guidance.
METHODS: Serology, Sanger and long-read sequencing of RhD, RhCE and RhAG were performed in the donor and his family.
RESULTS: The donor displayed Rhnull with normal RhD/CE genes but compound-heterozygous RhAG mutations: c.419 A > C (p.Gln140Arg, novel) and c.1108G > A (p.Gly370Arg). Father and son carry only c.419 A > C and have standard DCCee phenotypes, confirming recessive null inheritance. In-silico and structural modeling predict both substitutions disrupt RhAG-RhCE assembly.
CONCLUSION: We identify a new RhAG allele that abolishes Rh expression and is readily transmitted. Early autologous blood storage and extended RhAG genotyping are recommended for these ultra-rare individuals to avert future transfusion crises.