Abstract: Sickle cell anemia is a recessive genetic disease
caused by the presence in the red blood cell, of abnormal hemoglobin
called hemoglobin S. It results from the replacement in the beta chain
of the acid glutamic acid by valin at position 6. Topics may be
homozygous (SS) or heterozygous (AS) most often
asymptomatic. Other mutations result in compound heterozygous:
- Synthesis of hemoglobin C mutation in the sixth leucin codon
(heterozygous SC);
- ß-thalassemia (heterozygous S-ß thalassemia).
SS homozygous, heterozygous SC and S- ß -thalassemia are grouped
under the major sickle cell syndromes.
To make a laboratory diagnosis of hemoglobinopathies in a
portion of the population in region of Batna, our study was
conducted on 115 patients with suspected sickle cell anemia, all cases
have benefited from hematological tests as blood count (count RBC,
calculated erythrocyte indices, MCV and MCHC, measuring the
hemoglobin concentration) and a biochemical test in this case
electrophoresis CAPILLARYS HEMOGLOBIN (E).
The results showed:
27 cases of sickle cell anemia were found on 115 suspected cases,
73,03% homozygous sickle cell disease and 59,25% sickle cell trait.
Finally, the double heterozygous S/C, represent the incidence rate of
3, 70%.
Abstract: Neem is a highly heterozygous and commercially
important perennial plant. Conventionally, it is propagated by seeds
which loose viability within two weeks. Strictly cross pollinating
nature of the plant causes serious barrier to the genetic improvement
by conventional methods. Alternative methods of tree improvement
such as somatic hybridization, mutagenesis and genetic
transformation require an efficient in vitro plant regeneration system.
In this regard, somatic embryogenesis particularly secondary somatic
embryogenesis may offer an effective system for large scale plant
propagation without affecting the clonal fidelity of the regenerants. It
can be used for synthetic seed production, which further bolsters
conservation of this tree species which is otherwise very difficult
The present report describes the culture conditions necessary to
induce and maintain repetitive somatic embryogenesis, for the first
time, in neem. Out of various treatments tested, the somatic embryos
were induced directly from immature zygotic embryos of neem on
MS + TDZ (0.1 μM) + ABA (4 μM), in more than 76 % cultures.
Direct secondary somatic embryogenesis occurred from primary
somatic embryos on MS + IAA (5 μM) + GA3 (5 μM) in 12.5 %
cultures. Embryogenic competence of the explant as well as of the
primary embryos was maintained for a long period by repeated
subcultures at frequent intervals. A maximum of 10 % of these
somatic embryos were converted into plantlets.
Abstract: Human genome is not only the evolutionary
summation of all advantageous events, but also houses lesions of
deleterious foot prints. A single gene mutation sometimes may
express multiple consequences in numerous tissues and a linear
relationship of the genotype and the phenotype may often be obscure.
ß Thalassemia minor, a transfusion independent mild anaemia,
coupled with environment among other factors may articulate into
phenotypic pleotropy with Hypocholesterolemia, Vitamin D
deficiency, Tissue hypoxia, Hyper-parathyroidism and Psychological
alterations. Occurrence of Pancreatic insufficiency, resultant
steatorrhoea, Vitamin-D (25-OH) deficiency (13.86 ngm/ml) with
Hypocholesterolemia (85mg/dl) in a 30 years old male ß Thal-minor
patient (Hemoglobin 11mg/dl with Fetal Hemoglobin 2.10%, Hb A2
4.60% and Hb Adult 84.80% and altered Hemogram) with increased
Para thyroid hormone (62 pg/ml) & moderate Serum Ca+2
(9.5mg/ml) indicate towards a cascade of phenotypic pleotropy
where the ß Thalassemia mutation ,be it in the 5’ cap site of the
mRNA , differential splicing etc in heterozygous state is effecting
several metabolic pathways. Compensatory extramedulary
hematopoiesis may not coped up well with the stressful life style of
the young individual and increased erythropoietic stress with high
demand for cholesterol for RBC membrane synthesis may have
resulted in Hypocholesterolemia.Oxidative stress and tissue hypoxia
may have caused the pancreatic insufficiency, leading to Vitamin D
deficiency. This may in turn have caused the secondary
hyperparathyroidism to sustain serum Calcium level. Irritability and
stress intolerance of the patient was a cumulative effect of the vicious
cycle of metabolic compromises. From these findings we propose
that the metabolic deficiencies in the ß Thalassemia mutations may
be considered as the phenotypic display of the pleotropy to explain
the genetic epidemiology.
According to the recommendations from the NIH Workshop on
Gene-Environment Interplay in Common Complex Diseases: Forging
an Integrative Model, study design of observations should be
informed by gene-environment hypotheses and results of a study
(genetic diseases) should be published to inform future hypotheses.
Variety of approaches is needed to capture data on all possible
aspects, each of which is likely to contribute to the etiology of
disease. Speakers also agreed that there is a need for development of
new statistical methods and measurement tools to appraise
information that may be missed out by conventional method where
large sample size is needed to segregate considerable effect.
A meta analytic cohort study in future may bring about significant
insight on to the title comment.
Abstract: The PAX6, a transcription factor, is essential for the morphogenesis of the eyes, brain, pituitary and pancreatic islets. In rodents, the loss of Pax6 function leads to central nervous system defects, anophthalmia, and nasal hypoplasia. The haplo-insufficiency of Pax6 causes microphthalmia, aggression and other behavioral abnormalities. It is also required in brain patterning and neuronal plasticity. In human, heterozygous mutation of Pax6 causes loss of iris [aniridia], mental retardation and glucose intolerance. The 3- deletion in Pax6 leads to autism and aniridia. The phenotypes are variable in peneterance and expressivity. However, mechanism of function and interaction of PAX6 with other proteins during development and associated disease are not clear. It is intended to explore interactors of PAX6 to elucidated biology of PAX6 function in the tissues where it is expressed and also in the central regulatory pathway. This report describes In-silico approaches to explore interacting proteins of PAX6. The models show several possible proteins interacting with PAX6 like MITF, SIX3, SOX2, SOX3, IPO13, TRIM, and OGT. Since the Pax6 is a critical transcriptional regulator and master control gene of eye and brain development it might be interacting with other protein involved in morphogenesis [TGIF, TGF, Ras etc]. It is also presumed that matricelluar proteins [SPARC, thrombospondin-1 and osteonectin etc] are likely to interact during transport and processing of PAX6 and are somewhere its cascade. The proteins involved in cell survival and cell proliferation can also not be ignored.
Abstract: The p53 tumor suppressor gene plays two important
roles in genomic stability: blocking cell proliferation after DNA
damage until it has been repaired, and starting apoptosis if the
damage is too critical. Codon 72 exon4 polymorphism (Arg72Pro) of
the P53 gene has been implicated in cancer risk. Various studies have
been done to investigate the status of p53 at codon 72 for arginine
(Arg) and proline (Pro) alleles in different populations and also the
association of this codon 72 polymorphism with various tumors. Our
objective was to investigate the possible association between P53
Arg72Pro polymorphism and susceptibility to colorectal cancer
among Isfahan and Chaharmahal Va Bakhtiari (a part of south west
of Iran) population. We investigated the status of p53 at codon 72 for
Arg/Arg, Arg/Pro and Pro/Pro allele polymorphisms in blood
samples from 145 colorectal cancer patients and 140 controls by
Nested-PCR of p53 exon 4 and digestion with BstUI restriction
enzyme and the DNA fragments were then resolved by
electrophoresis in 2% agarose gel. The Pro allele was 279 bp, while
the Arg allele was restricted into two fragments of 160 and 119 bp.
Among the 145 colorectal cancer cases 49 cases (33.79%) were
homozygous for the Arg72 allele (Arg/Arg), 18 cases (12.41%) were
homozygous for the Pro72 allele (Pro/Pro) and 78 cases (53.8%)
found in heterozygous (Arg/Pro).
In conclusion, it can be said that p53Arg/Arg genotype may be
correlated with possible increased risk of this kind of cancers in south
west of Iran.