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Studies on apolipoprotein B and E genes in familial hyperlipidemias

家族性高脂血症中载脂蛋白B、E基因的研究

基本信息

批准号：
59480198
负责人：
MABUCHI Hiroshi
金额：
$ 2.56万
依托单位：
University of Kanazawa
依托单位国家：
日本
项目类别：
Grant-in-Aid for General Scientific Research (B)
财政年份：
1984
资助国家：
日本
起止时间：
1984 至 1986
项目状态：
已结题

项目摘要

To probe a human adult liver cDNA library for apo-E cDNA clones, an oligonucleotide corresponding to apo E amino acids 218 to 222 was synthesized. One of 8 apoE cDNA clone (pAPOE7) was used as an apo E DNA probe for study of genomic DNA from a patient with apo E deficiency. Five micrograms of genomic DNA of apo E deficiency patient digested with Hind III or EcoRI, produced hybridization bands of approximately 1.9 and 12 Kb, respectively. The sizes of the hybridization bands were the same for normal controls and the proband's DNA.Full length cDNA (pLDLR-3) and partial cDNA (pLDLR-2HHI) for human LDL receptor (LDlR) were used as LDLR DNA probes for studying genomic DNA from patients with familial hypercholesterolemia (FH) and normal subjects. Restriction fragment length polymorphism (RFLP) study of LDLR by PvuII showed allele A (16.5kb and 3.5kb) and allele B (14.0kb, 3.5kb and 2.5kb). The frequencies of the RFLP were determined in 28 FH patients and 13 normal subjects. The frequencies o … More f allele A and B in FH and normal subjects were 0.08 and 0.13, and 0.72 and 0.08, respectively.Two patients (K.Y. and S.O.) with FH showed an abnormal fragment pattern of LDLR gene. After digestions with various restriction enzymes, we considered that these two patients had a common mutant LDLR allele that had a 6kb deletion, and the deletion encompassed an area near the 5' end of exon 15 up to the Hind III site in intron 15. The FH phenotype and the abnormal fragment of LDLR completely cosegregated in all the 11 members of the family of K.Y. In the family of S.O, S.O and her two daughters (M.T. and C.M.) with FH showed an abnormal gragment of LDLR gene. The serum cholesterol levels of M.T.'s baby was 78 mg/dl. On Southern blotting analysis, the baby revealed an abnormal 10.5kb fragment. On the other hand, C.M.'s baby was normocholesterolemic (51 mg/dl) and showed no abnormal LDLR gene and was diagnosed as normal subject. We designated the patients with this new mutant gene as "FH-Tonami". Less

为了探测人成人肝脏cDNA文库中的apo-E cDNA克隆，合成了对应于apo E氨基酸218至222的寡核苷酸。用8个载脂蛋白E cDNA克隆中的一个（pAPOE 7）作为载脂蛋白E DNA探针，对一例载脂蛋白E缺乏症患者的基因组DNA进行了研究。用Hind Ⅲ或EcoRI消化5 μ g载脂蛋白E缺乏症患者的基因组DNA，分别产生约1.9和12 Kb的杂交带。以人低密度脂蛋白受体（LDlR）的全长cDNA（pLDLR-3）和部分cDNA（pLDLR-2 HHI）为探针，对家族性高胆固醇血症（FH）患者和正常人的基因组DNA进行了研究。限制性片段长度多态性（RFLP）分析结果显示，LDLR基因的等位基因A（16.5kb和3.5kb）和等位基因B（14.0kb、3.5kb和2.5kb）。测定了28例FH患者和13例正常人的RFLP频率。频率O ...更多信息 F等位基因A和B在FH组和正常对照组的平均值分别为0.08和0.13，0.72和0.08。和S. O.）FH表现出LDLR基因异常片段模式。经多种限制性内切酶双酶切后，我们认为这两例患者有一个共同的突变型LDLR等位基因，该等位基因有一个6 kb的缺失，缺失范围包括外显子15的5'端附近至内含子15的Hind III位点。K.Y.家族11个成员的FH表型与LDLR异常片段完全共分离。在S.O的家庭中，S.O和她的两个女儿（MT和C. M.）FH患者LDLR基因片段异常。血清胆固醇水平与M.T.的婴儿为78 mg/dl。经Southern杂交分析，该婴儿出现了一个10.5kb的异常片段。另一方面，C。的婴儿是正常胆固醇血症（51 mg/dl），未显示异常LDLR基因，诊断为正常受试者。我们将携带这种新突变基因的患者命名为“FH-Tonami”。少

项目成果

期刊论文数量（32）

专著数量（0）

科研奖励数量（0）

会议论文数量（0）

专利数量（0）

梶波康二,馬渕宏: Medical Way. 3. 83-90 (1986)

Koji Kajinami、Hiroshi Mabuchi：医学之路。3. 83-90 (1986)

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Kouji Kajinami et al.: "Studies on bovine LDL receptor cDNA." J.Japan Atherosclerosis Society. 13. 1353-1356 (1986)

Kouji Kajinami 等人：“牛 LDL 受体 cDNA 的研究”。

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Kouji Kajinami, et al.: "Diagnosis of familial hypercholesterolemia by LDL receptor gene analysis." Medical Way. 3. 83-90 (1986)

Kouji Kajinami 等人：“通过 LDL 受体基因分析诊断家族性高胆固醇血症。”

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梶波康二,武田三昭,伊藤英章,酒井泰征,道下一朗,嘉門信雄,坂井健志,若杉隆伸,馬渕宏,竹田亮祐: 動脈硬化. 13. 1353-1356 (1986)

Koji Kajinami、Mitsuaki Takeda、Hideaki Ito、Yasuyuki Sakai、Ichiro Michishita、Nobuo Kamon、Kenji Sakai、Takanobu Wakasugi、Hiroshi Mabuchi、Ryosuke Takeda：动脉硬化。