A homozygous female hemophilia A

BACKGROUND:

Hemophilia A (HA), being an X-linked recessive disorder, females are rarely affected, although they can be carriers.

AIMS:

To study the mutation in F8 gene in an extended family with a homozygous female HA.

MATERIALS AND METHODS:

All the seven affected members (six males and one female) were initially screened by Conformation Sensitive Gel Electrophoresis (CSGE) and direct DNA sequencing.

RESULTS:

A homozygous missense mutation c.1315G>A (p.Gly420Ser) was identified in exon 9 of F8 gene in homozygous state in the affected female born of 1° consanguinous marriage and in all the affected male members of the family. Her factor VIII levels was found to be 5.5%, vWF:Ag 120%.

CONCLUSION:

In India, as consanguineous marriages are very common in certain communities (up to 30%), the likelihood of encountering female hemophilia is higher, although this is the first case of HA out of 1600 hemophilia families registered in our Comprehensive Haemophilia Care Center. Genetic diagnosis in such cases is not necessary as all the male children will be affected and daughters obligatory carriers.     

A glucoside of urospermal A

The aerial parts of Urospermum picroides afforded, in addition to urospermal A a p-hydroxylphenyl acetate of a glucoside of urospermal A.     

Aminopeptidase A is angiotensinase A

Summary Quantitative histochemical measurements of aminopeptidase A (APA; E.C.3.4.11.7) were done kinetically in the kidney glomeruli of rat and mouse with an instrumental setup consisting of a microdensitometer and a computer-supported morphometric system. The histochemical demonstration of APA was carried out using the simultaneous azo coupling technique (purest-grade Fast Blue B as coupling agent and -l-glutamic acid-4-methoxy-2-naphthylamide as substrate). The methodological studies show that APA activity is calcium-ion-dependent and increases linearly with the thickness of the tissue section (3–12 m) and that the time-course of APA activity as determined by linear regression is linear only for the first 1 to 2 min of the reaction. — Kinetic measurements indicate a 40% decrease in APA activities when -l-glutamic acid-4-methoxy-2-naphthylamide (-l-Glu-MNA) is replaced by -l-aspartic acid-4-methoxy-2-naphthylamide. When -l-Glu-MNA is replaced with l-alanine-4-methoxy-2-naphthylamide, which is a substrate of aminopeptidase M (APM) only very low reaction rates are measurable (about 1.4% of those with -l-Glu-MNA). 100 and 130 mM NaCl in the incubation medium increase APA activities by approximately 16%–17%. — To clarify the functional importance of APA in the kidney, their activities were measured under the influence of angiotensins. The glomerulus was selected as the measuring site, for besides APA it contains no APM or other peptidases that could degrade angiotensins (the glomerular dipeptidyl peptidase IV is not inhibited by angiotensin II). Using the Lineweaver-Burk plot, we determined a K _m of 0.16 mM for the APA in rat glomeruli and 0.14 mM in mouse glomeruli. The V _max in mouse glomeruli is 1.6 times higher than in rat glomeruli. Ang iotensin I, II and III competitively inhibit APA in the rat and mouse glomeruli. — With quantitative histochemical techniques it was possible to show that APA is equivalent to angiotensinase A (splitting off the N-terminal aspartic acid from angiotensin I and II).Supported by the Deutsche Forschungsgemeinschaft (SFB 105)     

Quadruplexes of human telomere DNA analogs designed to contain G:A:G:A,G:G:A:A,and A:A:A:A tetrads

Replacement of two to four guanines by adenines in the human telomere DNA repeat dG₃(TTAG₃)₃ did not hinder the formation of quadruplexes if the substitutions took place in the terminal tetrad bridged by the diagonal loop of the intramolecular antiparallel three‐tetrad scaffold, as proved by CD and PAGE in both Na⁺ and K⁺ solutions. Thermodynamic data showed that, in Na⁺ solution, the dG₃(TTAG₃)₃ quadruplex was destabilized, the least by the two G:A:G:A tetrads, the most by the G:G:A:A tetrad in which the adenosines replaced syn‐guanosines. In physiological K⁺ solution, the highest destabilization was caused by the 4A tetrad. In K⁺, only the unmodified dG₃(TTAG₃)₃ quadruplex rearranged into a K⁺‐dependent quadruplex form, none of the multiple adenine‐modified structures did so. This may imply biological consequences for nonrepaired A‐for‐G mutations. © 2010 Wiley Periodicals, Inc. Biopolymers 93: 880–886, 2010.     

关于一个"基细胞"的疑问

有或没有基细胞是毛鞘藻属与枝鞘藻属的区别之一。这里叙述了Ｍｒｏｚｉｎｓｋａ在其专著中,将Ｏｅｄｏｃｌａｄｉｕｍ ｉｎｄｉｃｕｍ Ｋａｍａｔ附图（即模式图）上的一个基细胞错误地移置到Ｏｅ．ｐｒｅｓｃｏｔｔｉｉ Ｉｓｌａｍ上去的情况。     

A monoclonal antibody to ochratoxin A

The production of patulin by P. expansum Link ex Gray growing in apple juice was determined over a range of pH. Patulin was found to be produced in large quantities over a narrow range of pH from 3-2 to 3–8. The biomass produced increased with increasing pH. The changes in pH due to growth of the organism were found to be small.     

关于一个“基细胞”的疑问

有或没有基细胞是毛鞘藻属(Bulbochaets)与枝鞘藻属(Oedocladium)的区别之一。这里叙述了Mrozinska在其专著(1985)中,将Oedocladium indicum Kama附图(即模式图)上的一个基细胞错误地移置到Oe.PrescottiiIslam上去的情况。     

A

A valley mire was sampled on the flanks of Swampy Hill, east Otago, New Zealand. It formed in a narrow valley, apparently originally comprising two basins. The end of the mire nearest the outlet contained species typical of fens (i.e., rheotrophic mires). At the head of the valley there was a section of the mire with mixed vegetation cover comprising the tussock grass Chionochloa rubra, Sphagnum species, and cushion/herb/shrub cover. Ombrotrophic status of this section was indicated by a slightly raised profile, greater acidity, lower exchangeable Na and K, and lower substrate cation exchange capacity, identifying it as a bog. Total Ca:Mg molar ratios were generally above 1.0, but this rule-of-thumb for ombrotrophic status may be inapplicable here. It is not known whether New Zealand Sphagnum species are as efficient at lowering the pH as those investigated elsewhere. Macrofosssil evidence indicates that some components of the bog, such as Sphagnum and epacridaceous subshrubs, have remained constant, almost since the inception of the bog. However, Empodisma minus, currently absent from the bog and rare in the region, was present at one stage. The change from cover with Empodisma and Dracophyllum as significant components, to the present Chionochloa/Sphagnum/cushion composition, occurred a few hundred years ago, probably initiated by fire. Comparison with preliminary information for other bogs suggests that those in the eastern part of the South Island vary considerably in species composition, with individualistic assemblages of species. The site is seen as having high conservation values. To protect these values the bog needs protection from invasive exotic weeds, and from damage by wild pigs.