Molecular analysis of the human orosomucoid gene ORM1*Q0köln responsible for incompatibility in a German paternity case
Molecular analysis of the human orosomucoid gene ORM1*Q0köln responsible for incompatibility in a German paternity case
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对德国亲子鉴定案例中导致不相容的人类类类粘蛋白基因 ORM1*Q0köln 进行分子分析
DOI：
10.1007/s004149900118
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发表时间：
2000
影响因子：
2.1
通讯作者：
K. Kimura
中科院分区：
文献类型：
--
作者：
H. Nakamura;I. Yuasa;K. Umetsu;J. Henke;L. Henke;E. Nanba;K. Kimura
摘要在一项德国亲子鉴定中，在调查的28个经典标记和DNA标记中，只有ORM1表型(母亲ORM1 S、孩子ORM1 S和所谓父亲ORM1 F1)的反向纯合性才能排除所谓的父亲。在没有ORM1系统的情况下，亲子关系的生物统计概率计算出超过99.9999%。等电聚焦后，孩子和据称是父亲的ORM1蛋白的免疫印记条带的强度似乎减少了大约一半。为了确定一个可能的零等位基因，进行了基因特异性扩增、单链构象多态和测序分析。在孩子和据称是父亲的患者中，观察到ORM1*F1共同序列外显子4的两个拷贝中的一个缺失。因此，共享一种罕见的突变基因ORM1*Q0köln，增加了父子关系的可能性。
Abstract In a German paternity test, an alleged father was excluded only by reverse homozygosity of ORM1 phenotypes (mother ORM1 S, child ORM1 S and alleged father ORM1 F1) out of the 28 classical and DNA markers investigated. Without the ORM1 system the biostatistical probability of paternity was calculated to exceed 99.9999%. The intensity of the immunoprinted bands of the ORM1 protein for the child and alleged father after isoelectric focusing appeared to be reduced to about half. To identify a possible null allele, gene-specific amplification followed by single-strand conformation polymorphism and sequencing analyses were carried out. Deletion of one of the two copies of a 4 bp direct repeat sequence (GTCT) in exon 4 of the consensus sequence of ORM1*F1 was observed in the child and alleged father. Thus, the sharing of a rare mutant gene, ORM1*Q0köln, increased the probability of paternity.
Hb Seal Rock [(alpha 2)142 术语-->Glu，密码子 142 TAA-->GAA]：与贫血、小红细胞增多症和 α-地中海贫血 2 相关的延长 α 链变体 (-3.7 Kb)。
影响因子：
1
作者：
Merritt,D;Jones,RT;Head,C;Thibodeau,SN;Fairbanks,VF;Steinberg,MH;Coleman,MB;Rodgers,GP
通讯作者：
Rodgers,GP
低丰度人类血浆蛋白的遗传学研究。
影响因子：
9.8
作者：
Escallon,MH;Ferrell,RE;Kamboh,MI
通讯作者：
Kamboh,MI