Gene frequency and partial protein characterization of an allelic variant of mannan binding protein associated with low serum concentrations
Gene frequency and partial protein characterization of an allelic variant of mannan binding protein associated with low serum concentrations
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与低血清浓度相关的甘露聚糖结合蛋白等位基因变体的基因频率和部分蛋白质特征
DOI：
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发表时间：
1992
影响因子：
4.6
通讯作者：
A. Svejgaard
中科院分区：
文献类型：
--
作者：
P. Garred;Steffen Thiel;H. Madsen;L. Ryder;J. C. Jensenius;A. Svejgaard
甘露聚糖结合蛋白（MBP）的低血浆浓度已被证明是常见的opsonic缺陷的基础，并被认为是由MBP基因外显子1的230个碱基的单核苷酸替换引起的。这种取代导致甘氨酸（密码子GGC）被天冬氨酸（密码子GAC）取代。对123名健康的丹麦人进行外显子1聚合酶链反应，然后进行限制性片段长度多态性或异体特异性探测，GGC纯合子93人（75.6%），杂合子28人（22.8%），GAC纯合子2人（1.6%）。GAC等位基因的基因频率为013。从一个GAC纯合个体克隆的外显子1的DNA测序显示没有其他替代。GAC等位基因组的中位MBP浓度比GGC纯合组低6.4倍（分别为195 μ/l和1234 μ/l）。然而，血浆中MBP浓度的变化范围很广，并且在两组之间存在重叠。GAC纯合子中均检测到MBP蛋白（9和387 μ/l）。此外，当研究含有两种形式MBP的血清时，没有发现相对质量和生物活性（甘露聚糖结合）的差异。因此，可以得出结论，GAC等位基因能够产生功能性的MBP蛋白，这种蛋白可以在低浓度的血清中检测到。
Low plasma concentration of mannan binding protein (MBP) has been shown to be the basis for a common opsonic deficiency and suggested to be caused by a single nucleotide substitution at base 230 of exon 1 in the MBP gene. This substitution causes a replacement of glycine (codon GGC) with aspartic acid (codon GAC). Of 123 healthy Danish individuals investigated by polymerase chain reaction performed on exon 1, followed by restriction fragment length polymorphism or allospecific probing, 93 were homozygous (75.6%) for GGC, 28 heterozygous (22.8%), and two homozygous for GAC (1.6%). The gene frequency of the GAC allele was found to be 013. DNA sequencing of the cloned exon 1 from one GAC homozygous individual revealed no other substitution. The median MBP concentration in the group containing the GAC allele was 6.4 times lower than in the GGC homozygous group (195 and 1234 μ/l respectively). However, the range in plasma concentrations of MBP was wide and overlapping between the groups. MBP protein was detected in both the GAC homozygotes (9 and 387 μ/l. Furthermore, no difference in relative mass and biological activity (mannan binding) was found when sera containing the two forms of MBP were investigated. Accordingly, it can be concluded that the GAC allele is able to produce a functional MBP protein which may be detected in serum at low concentrations.
DOI：
10.1056/nejm198411293112205
发表时间：
1984-11
期刊：
The New England journal of medicine
影响因子：
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作者：
C. Dinarello
通讯作者：
C. Dinarello