scholarly journals HRG Tokushima: Molecular and Cellular Characterization of Histidine-Rich Glycoprotein (HRG) Deficiency

Blood ◽  
1998 ◽  
Vol 91 (1) ◽  
pp. 128-133 ◽  
Author(s):  
Toshio Shigekiyo ◽  
Hidemasa Yoshida ◽  
Kazuya Matsumoto ◽  
Hiroyuki Azuma ◽  
Sadao Wakabayashi ◽  
...  
Keyword(s):  
Family Members ◽  
Japanese Woman ◽  
Nucleotide Position ◽  
Single Nucleotide ◽  
Her Family ◽  
Intracellular Degradation ◽  
Congenital Deficiency ◽  
The Family ◽  
Normal Japanese

AbstractPreviously, we found the first congenital deficiency of histidine-rich glycoprotein (HRG) in a Japanese woman with thrombosis. To elucidate the genetic basis of this deficiency, we first performed Southern blot analysis and found no gross deletion or insertion in the proband's HRG gene. We then examined the nucleotide sequences of all seven exons of the proband's HRG gene. A single nucleotide substitution, G to A at nucleotide position 429, which mutates Gly85 to Glu in the first cystatin-like domain, was found in exon 3 in 13 of 22 amplified clones. This mutation generates a unique Taq I site. Exon 3 was amplified from the proband, her family members, and 50 unrelated normal Japanese individuals, and Taq I fragmentation was examined. Fragmentation of exon 3 was observed in one allele of the genes from the proband and the family members who also have decreased plasma levels of HRG. Fifty unrelated normal Japanese individuals had a normal HRG gene, indicating that the G to A mutation is not a common polymorphism. To elucidate the identified mutation as a cause for the secretion defect of HRG in the proband's plasma, we constructed and transiently expressed the recombinant Tokushima-type HRG mutant (Gly85 to Glu) in baby hamster kidney (BHK) cells, and examined an intracellular event of the mutant protein. The results showed that only about 20% of the Tokushima-type HRG was secreted into the culture medium, and intracellular degradation of the mutant was observed. Thus, the present study strongly suggests that the HRG deficiency is caused by intracellular degradation of the Gly85 to Glu mutant of HRG in the proband.

scholarly journals HRG Tokushima: Molecular and Cellular Characterization of Histidine-Rich Glycoprotein (HRG) Deficiency

Blood ◽  
1998 ◽  
Vol 91 (1) ◽  
pp. 128-133
Author(s):  
Toshio Shigekiyo ◽  
Hidemasa Yoshida ◽  
Kazuya Matsumoto ◽  
Hiroyuki Azuma ◽  
Sadao Wakabayashi ◽  
...  
Keyword(s):  
Family Members ◽  
Japanese Woman ◽  
Nucleotide Position ◽  
Single Nucleotide ◽  
Her Family ◽  
Intracellular Degradation ◽  
Congenital Deficiency ◽  
The Family ◽  
Normal Japanese

Previously, we found the first congenital deficiency of histidine-rich glycoprotein (HRG) in a Japanese woman with thrombosis. To elucidate the genetic basis of this deficiency, we first performed Southern blot analysis and found no gross deletion or insertion in the proband's HRG gene. We then examined the nucleotide sequences of all seven exons of the proband's HRG gene. A single nucleotide substitution, G to A at nucleotide position 429, which mutates Gly85 to Glu in the first cystatin-like domain, was found in exon 3 in 13 of 22 amplified clones. This mutation generates a unique Taq I site. Exon 3 was amplified from the proband, her family members, and 50 unrelated normal Japanese individuals, and Taq I fragmentation was examined. Fragmentation of exon 3 was observed in one allele of the genes from the proband and the family members who also have decreased plasma levels of HRG. Fifty unrelated normal Japanese individuals had a normal HRG gene, indicating that the G to A mutation is not a common polymorphism. To elucidate the identified mutation as a cause for the secretion defect of HRG in the proband's plasma, we constructed and transiently expressed the recombinant Tokushima-type HRG mutant (Gly85 to Glu) in baby hamster kidney (BHK) cells, and examined an intracellular event of the mutant protein. The results showed that only about 20% of the Tokushima-type HRG was secreted into the culture medium, and intracellular degradation of the mutant was observed. Thus, the present study strongly suggests that the HRG deficiency is caused by intracellular degradation of the Gly85 to Glu mutant of HRG in the proband.

Unblocking Enlightenment Loos, Bernardin's Boxer Shorts and Other Day-to-Day Practicalities in Eighteenth-Century Normandy: A Whistle-Stop Tour of Catherine de Saint-Pierre's Networks

2015 ◽  
Vol 54 (2) ◽  
pp. 210-223
Author(s):  
Katherine Astbury ◽  
Catriona Seth
Keyword(s):  
Social Networks ◽  
Eighteenth Century ◽  
Family Dynamics ◽  
Family Members ◽  
Her Family ◽  
The Family ◽  
The World ◽  
The One

Catherine de Saint-Pierre was Bernardin de Saint-Pierre's sister. Although his letters to her have not survived, we do have her letters to him. While he and his brothers travelled the world from Mauritius to Haiti, Catherine remained in their native Normandy. News and merchandise from far-flung corners of the globe came to her, but she never moved. Nevertheless she played an important role in the family dynamics, as she was often the one who gave family members news about each other. The trials and tribulations of her life in Dieppe fill the pages of her letters, but, in addition to details of her latest ailments, we gain a sense of someone who was very adept at navigating social networks to get the best for her and her family at as little cost as possible. This article reveals the hidden practical realities of getting things done on a budget in Dieppe at the end of the eighteenth century. It highlights the range and versatility of the networks upon which Catherine called as a means of saving money and provides us with some insider details on everyday expenses and exchanges invaluable to all those looking to better understand the economics and legalities of period.

scholarly journals Characterization of a Small Supernumerary Marker Chromosome Derived from Xq28 and 14q11.2 Detected Prenatally

2018 ◽  
Vol 2018 ◽  
pp. 1-4
Author(s):  
Akihiro Hasegawa ◽  
Osamu Samura ◽  
Taisuke Sato ◽  
Tomona Matsuoka ◽  
Yuki Ito ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism Array ◽  
Marker Chromosome ◽  
Male Infant ◽  
Japanese Woman ◽  
Structural Abnormality ◽  
Single Nucleotide ◽  
Small Supernumerary Marker Chromosome ◽  
Old Japanese ◽  
Fetal Karyotype

We present the characterization of a case with a small supernumerary marker chromosome (sSMC) detected prenatally derived from Xq28 and 14q11.2 maternal translocation. A 33-year-old Japanese woman, primigravida, underwent amniocentesis because of fetal growth restriction and fetal structural abnormality at 30 weeks of gestation. The fetal karyotype was identified as 47,XY,+mar. Additionally, the single nucleotide polymorphism array analysis revealed copy number gains at Xq28 and 14q11.2. A male infant, weighing 1,391 g, was delivered at term by cesarean section. Maternal and paternal karyotypes were 46,X,t(X; 14)(q28; q11) and 46,XY, respectively. These findings indicated that the sSMC might have originated from chromosome disjunction at a ratio of three to one. Here we describe a case with an sSMC derived from Xq28 and 14q11.2. Our findings suggest that this sSMC is most likely pathogenic. The collection of additional cases may be required.

A Single Thymine Nucleotide Deletion Responsible for Congenital Deficiency of Plasmin Inhibitor

2002 ◽  
Vol 88 (07) ◽  
pp. 144-148 ◽  
Author(s):  
Haruhiko Yoshinaga ◽  
Masako Nakahara ◽  
Aya Shibamiya ◽  
Fumie Nakazawa ◽  
Lindsey Miles ◽  
...  
Keyword(s):  
Amino Acids ◽  
Amino Acid ◽  
Amino Acid Sequence ◽  
Family Members ◽  
Predicted Amino Acid Sequence ◽  
Hemorrhagic Diathesis ◽  
Nucleotide Position ◽  
Congenital Deficiency ◽  
Pi Deficiency ◽  
Plasmin Inhibitor

SummaryPlasma plasmin inhibitor (PI) is a physiological inhibitor of plasminmediated fibrinolysis and constitutes a hemostatic component in blood plasma; hence its deficiency results in a severe hemorrhagic diathesis. We have carried out molecular analysis of American family members with congenital PI deficiency, and detected a single thymine deletion at nucleotide position 332 in exon 5. The deletion was found in both alleles of the homozygotes and in one allele of the heterozygotes, and the patterns of restriction fragment length polymorphism created by the mutation in the family members were compatible with their phenotypes. The deletion caused a frameshift leading to an alteration and shortening of the deduced amino acid sequence. The amino acid sequence consists of the first 83 amino acids of the N-terminal sequence of the normal PI and additional new amino acids, resulting in a mutant composed of 94 amino acids in contrast to 464 amino acids of the normal PI. In transient expression analysis, the mutant PI whose molecular size was compatible with the predicted amino acid sequence was detected in the lysates of the cells transfected with the mutated PI expression vector. The mutant PI was retained and underwent progressive degradation within the cells, and was minimally excreted into the media. These data indicate that this mutation is the cause of PI deficiency in this pedigree.

Histidine-rich Glycoprotein (HRG) Tokushima 2: Novel HRG Deficiency, Molecular and Cellular Characterization

2000 ◽  
Vol 84 (10) ◽  
pp. 675-679 ◽  
Author(s):  
Hidemasa Yoshida ◽  
Yasuhiko Kanagawa ◽  
Koichi Satoh ◽  
Sadao Wakabayashi ◽  
Toshio Matsumoto ◽  
...  
Keyword(s):  
Arteriovenous Fistula ◽  
Normal Level ◽  
Dural Arteriovenous Fistula ◽  
Nucleotide Substitution ◽  
The Other ◽  
Nucleotide Position ◽  
Single Nucleotide Substitution ◽  
Single Nucleotide ◽  
Intracellular Degradation ◽  
Expression Studies

SummaryThe proband, a 76-year-old woman, suffered from dural arteriovenous fistula. Her plasma histidine-rich glycoprotein (HRG) level was 50% of the normal level. A low level of plasma HRG was also found in her third daughter. A single nucleotide substitution of T to C was found at nucleotide position 11,438 in exon 6 of the HRG gene from the proband, converting Cys223 to Arg in the second cystatin-like domain. The same mutation was also identified in her third daughter, but not in the other four family members having normal HRG levels or in 50 unrelated healthy Japanese individuals. Expression studies in BHK cells showed that substantial intracellular degradation of the mutant occurred and only about 40% of the recombinant HRG mutant was secreted. These results indicate that congenital HRG deficiency caused by a substitution of Cys223 to Arg is hereditary in this family.

scholarly journals Abscission of Familial Bonding in Khaled Hosseini’s And the Mountains Echoed

2020 ◽  
Vol 8 (3) ◽  
pp. 54-56
Author(s):  
C Joy Hepzibah
Keyword(s):  
Young Child ◽  
Family Members ◽  
Traumatic Experience ◽  
The Novel ◽  
Her Family ◽  
Biological Parents ◽  
The Family ◽  
The World ◽  
Birth Family ◽  
Critical Situations

Adoption is a beautiful thing in the world when it comes to giving life to abandon children. But as said often, “The only guarantee if a child is adopted is trauma,” the same adoption is so brutal when the child has been separated from the living family members and given for adoption. There is no worse pain than the pain of the children being separated from their birth family. This research throws light on abscission from the familial cohesion because of the critical situations in the family. Here, in this study, a young child is abscissed from her own family by adoption. The permanent separation from her biological parents creates the feeling of separation and longingness in the novel, And the Mountains Echoed, written by Khaled Hosseini. Pari, is theadopted child, and the protagonist of the novel was in her immature age when she had been separated from her family. The importance of familial relationships is shown very deeply in this novel through the plight of the protagonist, Pari. After the years of separation, the same child who became a mature woman gets reunited with her brother. But the traumatic experience that she had undergone can never be undone.

There's No Place Like Home: Homestead Exemption and Judicial Constructions of Family in Nineteenth-Century America

2006 ◽  
Vol 24 (2) ◽  
pp. 245-295 ◽  
Author(s):  
Alison D. Morantz
Keyword(s):  
Nineteenth Century ◽  
Legal Status ◽  
Family Members ◽  
Her Family ◽  
Nineteenth Century America ◽  
Family Head ◽  
Contractual Relationship ◽  
The Family ◽  
Homestead Exemption ◽  
Do So

In 1871, former slave Lettie Marshall sued the estate of B. G. Marshall, her former master, arguing that she was entitled to farm two hundred acres of his land in Fort Bend County, Texas. Her claim was based on a “homestead exemption” provision of the Texas Constitution, which exempted the homestead of a “family” from “forced sale for debts” and vested continued occupancy rights in surviving “family” members after the death of the family head. After Emancipation, Marshall and her family had become sharecroppers on B. G. Marshall's estate and continued to farm the land until his death. At trial, Marshall portrayed herself as B. G. Marshall's “confidential servant” whom he treated “like she was one of the family.” As proof that their bond transcended a mere contractual relationship, she noted that he had entrusted her with overseeing a “squad of eight or ten hands,” and that upon occasion she “lent him money” and even “lived in the same house with Marshall, who was a cripple, and … waited on him, ” when her legal status no longer obliged her to do so. Not only did she fulfill “all of the duties and relations to him of mother, sister, and daughter,” but Lettie Marshall, her husband, and their descendents were the only named beneficiaries of his will.

MOLECULAR HETEROGENEITY IN FAMILIAL HEPARIN COFACTOR II DEFICIENCY

1987 ◽  
Author(s):  
T R Andersson ◽  
M L Larsen ◽  
U Abildgaard
Keyword(s):  
Dermatan Sulfate ◽  
Family Members ◽  
Electrophoretic Pattern ◽  
Normal Activity ◽  
Molecular Heterogeneity ◽  
Heparin Cofactor Ii ◽  
Her Family ◽  
Congenital Deficiency ◽  
History Of

In our normal material of 379 blood donors,3 indivi-uals had values below mean −2.5 SD (below 56%).Further studies revealed hereditary deficiency in two of these individuals. In the family study,5 out of 7 individuals had heparin cofactor II (HC II) values below 56%. In only one of these 5 a history of DVT was obtained. In deceased members of her family, however, frequent episodes of thromboembolic disease had occurred.Crossed immunoelectrophoresis (CIE) was performed in plasma from deficiency individuals from both families. Heparin in the first dimension gave a pattern similar to that observed with normal pooled plasma. The inactivation of thrombin by HC II is preferentially accelerated by dermatan sulfate (DS).HC II consumption in in vitro coagulation is increased by DS rather than by heparin. This prompted the addition ofTBS to the first dimension, which makes the antigen move faster, but produced no alteration in the antigenic pattern or size, neither in pooled plasma nor in a family member with normal activity. In family members with low HC II activity, DS in the first dimension, resulted in an abnormal CIE pattern with two distinct precipitation arcs with identity pattern. Molecular heterogeneity of HC II has previously not been reported.Screening 70 individuals who had sustained thrombosis before the age of 50,no values suggesting congenital deficiency were encountered.Conclusion. The CIE findings suggest that plasma of affected family members contain two types of HC II molecules of immunological identity. One type shows the normal accelerated mobility in the presence of DS and the other lacks this effect. The abnormal electrophoretic pattern becomes, however, first apparent when DS is added to the first dimension. When looking for molecular defects in congenital HC II deficiency, it is important that the first dimension is run with DS.

scholarly journals Hemoglobin Hirose: α2β237(C3) Tryptophan Yielding Serine

Blood ◽  
1971 ◽  
Vol 38 (6) ◽  
pp. 730-738 ◽  
Author(s):  
KOTARO YAMAOKA
Keyword(s):  
Family Members ◽  
Chemical Characterization ◽  
The Third ◽  
The Family ◽  
Western Japan ◽  
Slow Moving ◽  
Clinically Significant ◽  
Β Chain ◽  
Screening Survey

Abstract During an electrophoretic screening survey for hemoglobinopathies in western Japan, a slow-moving variant of hemoglobin A, to be designated hemoglobin Hirose, was found in a family of Japanese origin. Chemical characterization of hemoglobin Hirose revealed that tryptophan at the 37th position of the β-chain was replaced by serine, the third residue of C-helix of the β-chain involving contacts between αl and β2 subunits. Even though the oxygen equilibrium of this hemoglobin was abnormal, none of the family members showed any clinically significant symptoms.

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