OncohematologyOncohematologyОнкогематология1818-83462413-4023Publishing House ABV Press15510.17650/1818-8346-2015-10-3-64-69BASIC RESEARCHФУНДАМЕНТАЛЬНЫЕ ИССЛЕДОВАНИЯ В ПРАКТИЧЕСКОЙ МЕДИЦИНЕ НА СОВРЕМЕННОМ ЭТАПЕMolecular basis of D-negative phenotype (literature review and case reports)Молекулярные основы D-отрицательного фенотипа (обзор литературы и описание случаев)GolovkinaL. L.ГоловкинаЛариса Леонидовна
Russian Federation

4a Novyy Zykovskiy Pr-d, Moscow, 125167

125167, Москва, Новый Зыковский проезд, 4

largol@mail.ruStremouchovaA. G.СтремоуховаА. Г.
Russian Federation

4a Novyy Zykovskiy Pr-d, Moscow, 125167

125167, Москва, Новый Зыковский проезд, 4

PushkinaT. D.ПушкинаТ. Д.
Russian Federation

4a Novyy Zykovskiy Pr-d, Moscow, 125167

125167, Москва, Новый Зыковский проезд, 4

KhasigovaB. B.ХасиговаБ. Б.
Russian Federation

4a Novyy Zykovskiy Pr-d, Moscow, 125167

125167, Москва, Новый Зыковский проезд, 4

AtroshchenkoG. V.АтрощенкоГ. В.
Russian Federation

4a Novyy Zykovskiy Pr-d, Moscow, 125167

125167, Москва, Новый Зыковский проезд, 4

VasilyevaM. N.ВасильеваМ. Н.
Russian Federation

4a Novyy Zykovskiy Pr-d, Moscow, 125167

125167, Москва, Новый Зыковский проезд, 4

KalandarovR. S.КаландаровР. С.
Russian Federation

4a Novyy Zykovskiy Pr-d, Moscow, 125167

125167, Москва, Новый Зыковский проезд, 4

ParovichnikovaE. N.ПаровичниковаЕ. Н.
Russian Federation

4a Novyy Zykovskiy Pr-d, Moscow, 125167

125167, Москва, Новый Зыковский проезд, 4

Hematological Research Center, Ministry of Health of RussiaФГБУ «Гематологический научный центр» Минздрава РоссииHematological Research Center, Ministry of Health of RussiaФГБУ «Гематологический научный центр» Минздрава России0810201510364690710201507102015https://oncohematology.abvpress.ru/ongm/article/view/155

The molecular basis of the D-negative phenotype formation in humans is presented in this article. Causes of true and false D-negative phenotype appearance are described. The basis of true D-negative phenotype are changes in the genome, that lead to complete lack of RhD antigen expression on the red blood cells surface, or defective expression of RhD antigen, not detectable by serological methods. The reason for the false D-negative phenotype is the insufficient sensitivity of routine serological methods. Cases of true and false D-negative phenotype identified during the examination of the Russia residents are described. We were able to identify one case of true (RHDψ) and five cases of false D-negative phenotype (RHD weak type 2 – two cases, RHD weak type 15 – one case and RHD weak type 20 – two cases) by molecular method.

В обзоре приводятся молекулярные основы формирования D-отрицательного фенотипа у людей. Описаны причины появления истинного и ложного D-отрицательных фенотипов. Основа истинного D-отрицательного фенотипа – изменения в геноме, следствием которых становятся либо полное отсутствие экспрессии белковой молекулы антигена RhD на поверхности эритроцитов, либо экспрессия неполноценного антигена RhD, не выявляемого серологическими методами исследования. Причина ложного D-отрицательного фенотипа – недостаточная чувствительность рутинных серологических методов исследования. Описаны случаи истинного и ложного D-отрицательных фенотипов, выявленные при обследовании россиян. Нам удалось выявить 1 случай истинного (RHDψ) и 5 случаев ложного D-отрицательного фенотипа (RHDweak тип 2 – 2 случая, RHDweak тип 15 – 1 случай и RHDweak тип 20 – 2 случая).

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