Family Studies of Type II CD36 Deficient Subjects: Linkage of a CD36 Allele to a Platelet-Specific mRNA Expression Defect(s) Causing Type II CD36 Deficiency
Family Studies of Type II CD36 Deficient Subjects: Linkage of a CD36 Allele to a Platelet-Specific mRNA Expression Defect(s) Causing Type II CD36 Deficiency
复制标题
II 型 CD36 缺陷受试者的家族研究：CD36 等位基因与导致 II 型 CD36 缺陷的血小板特异性 mRNA 表达缺陷的关联
DOI：
10.1055/s-0038-1649809
复制
发表时间：
1995
影响因子：
6.7
通讯作者：
Y. Matsuzawa
中科院分区：
文献类型：
--
作者：
H. Kashiwagi;Y. Tomiyama;S. Kosugi;M. Shiraga;Robert Lipsky;N. Nagao;Y. Kanakura;Y. Kurata;Y. Matsuzawa
我们对II型CD 36缺乏症进行了家族研究。在Mi.Y家族中，先证者（YII.1）和他的兄弟（YII.2）显示II型缺陷表型。在母体（YI.2）中，与CD 36阳性对照细胞相比，抗CD 36单克隆抗体0 KM 5与血小板和单核细胞的结合减少。在父亲（YI.1）中，尽管与他的血小板结合的0 KM 5减少，但他的单核细胞与正常对照单核细胞的结合几乎相同。基因组DNA分析表明，YI.2、YII.1和YII.2为脯氨酸90 →丝氨酸突变的杂合型，并且表明YI.1的两个等位基因均不具有该突变。CD 36 cDNA的分析表明，CD 36 cDNA的Pro 90形式可以在单核细胞中检测到，但在来自YII.1和YII.2的血小板中未检测到。这些数据表明，YII.1和YII.2可能是复合杂合子;具有血小板特异性mRNA表达缺陷的等位基因，其负责其血小板和单核细胞之间的不同CD 36表达，以及Ser 90等位基因。YI.1可能是血小板特异沉默等位基因的携带者。血小板特异性沉默等位基因与CD 36基因中多态性微卫星序列的特定基因型相关，支持我们的假设，即mRNA表达缺陷发生在CD 36基因或其附近。在第二个IICD 36型缺陷家族中，我们也获得了与这一假设一致的结果。
Summary We performed family studies with type II CD36 deficiency. In the Mi.Y family, the proband (YII.1) and his brother (YII.2) displayed a type II deficient phenotype. In the mother(YI.2), binding of the anti CD36 monoclonal antibody, 0KM5, to both platelets and monocytes was reduced as compared to CD36 positive control cells. In the father (YI.1), while 0KM5 binding to his platelets was reduced, that of his monocytes was almost the same as normal control monocytes. Analysis of genomic DNA showed that YI.2, YII.1 and YII.2 were heterozygous for a proline90→serine mutation, and showed that both alleles of YI.1 did not have the mutation. Analysis of CD36 cDNA showed that the Pro90 form of CD36 cDNA could be detected in monocytes, but not in platelets from YII.1 and YII.2. These data indicated that YII.1 and YII.2 could be compound heterozygotes; an allele having a platelet-specific mRNA expression defect(s), which was responsible for the different CD36 expression between their platelets and monocytes, and the Ser90 allele. YI.1 was suggested to be a carrier of the platelet-specific silent allele. The platelet-specific silent allele was linked to a specific genotype of a polymorphic microsatellite sequence in the CD36 gene, supporting our hypothesis that mRNA expression defect(s) occurred at or near the CD36 gene. In a second type IICD36 deficient family, we also obtained results consistent with this hypothesis.
影响因子：
20.3
作者：
D. Greenwalt;Robert Lipsky;C. Ockenhouse;H. Ikeda;N. Tandon;G. Jamieson
通讯作者：
D. Greenwalt;Robert Lipsky;C. Ockenhouse;H. Ikeda;N. Tandon;G. Jamieson