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Genetic disorders are far more common than is widely appreciated. Abnormalities can range from a small mutation in a single gene to the addition or subtraction of an entire chromosome or set of chromosomes. Sound knowledge is required enabling individuals to be better informed about genetic risks and reproductive options and thus further aids in prevention of morbidity resulting from genetic diseases and alleviation of the sufferings this would pose. The aim here is to provide overall familiarity with Genetic Disorders, with focus on its types and brief description on the diagnosis, screening and treatment.
Mentha arvensis have been known from the immemorial time as kitchen herbs and also as the medicinal herbs of the ancient human civilization. Mints plant belongs to family Lamiaceae and genus Mentha. It is polyploidy with chromosome no (2n) = 96. Japanese mint is one of the important commercial crops in central and tarai region of Uttar Pradesh and mostly cultivated in South Himalayan range, Northern Indo-Gangetic Plains, U.P. and some part of Bihar.
The genetics is regarded one of the important biological science. It has remarkably developed during the twentieth century and it has become engaged with a lot of science. For this reason , our book is considered as a new discovery but not only at the level of the chromosome or gene, but at the level of the references or sources, which can be as genetic dictionary that includes most of the genetic terms.
Eukaryotic chromosomes need centromeres to ensure their faithful transmission to daughter nuclei. The centromere is the site where the kinetochore assembles for chromosome attachment to the spindle microtubules, directing the chromosome segregation during nuclear division. Kinetochore assembly requires deposition of the centromeric histone H3 variant (CENH3) into centromeric nucleosomes. To investigate the structural requirements for centromere targeting, constructs for several heterologous CENH3 were transformed into the model plant A. thaliana. The results revealed that the more distantly related the heterologous protein is, the lower is the efficiency of targeting. Alignment of CENH3 sequences revealed that the tested species share three amino acids at loop1 region: threonine, arginine and alanine. These amino acids were substituted by asparagine, proline and valine encoding sequences via PCR mutagenesis. The recombinant CENH3 lost the ability to target the centromeres, indicating that the original three amino acids are necessary but not sufficient for targeting A. thaliana centromeres.
DNA replication is continually impeded by endogenous lesions that cause the stalling of replication forks. This threatens the integrity of the genome and may drive cancer development. Cells possess many mechanisms by which to deal with stalled forks including dormant (backup) origins, the Fanconi anemia pathway and the DNA helicase HELQ. However, their precise functions remained unclear. This book brings together multiple studies to shed light on how these mechanisms guard the genome. Using a unique mutant mouse model called Mcm4chaos3 exhibiting a decreased number of dormant origins, we provide evidence that origin-poor regions of the genome cannot finish replication until early M phase (or not all), leading to multiple forms of chromosome instability. A lack of dormant origins also leads to hyper-activation of the FA pathway, revealing its role in the recovery of stalled forks where origins are limited. Indeed, disruption of the FA pathway in Mcm4chaos3/chaos3 mice led to high perinatal lethality and accelerated tumor formation. Finally, we use the first Helq mutant mouse model to show that Helq works in parallel to the FA pathway to promote chromosome stability.
Our study on maternal and paternal lineages with the help of Mitochondrial DNA and Y Chromosome markers respectively on Baniya Caste Population of Haryana revealed the Indo-European affinity of the studied population. We showed that most of the individuals of Baniya caste exhibited the Indian specific macrohaplogroup M in mitochondrial DNA analysis and belonging to M207-R haplogroup which are the Indian specific haplogroups. PCA confirmed the strong affinity of this caste population with IE genepool with little admixture from neibouring population as evident from the clustering with the IE groups. The Admixture analysis showed the contribution of IE group in the origin of this caste population. The result reflects the rigidity in the customs of the Hindu society. There was the prominent reflection of the strict customs of the endogamy as evident from the homogeneity of the genepool of the studied caste. Thus, the social barrier has played a major role in shaping an origin of a caste population mainly.
The genus Lathyrus is wide spread in adverse environmental conditions. The main constrain of using Lathyrus is the presence of neurotoxin compound (ODAP), which causes Lathyrism for human and animals. To overcome this constrain, genetic resources must be mined for the genes conferring good agronomic traits and less amount of ODAP. Assessment of genetic diversity is the first priority in this context. Great homogeneity was observed in chromosome number of Lathyrus spp. The variation was only in karyptype characters and chromosome size, allowing the differentiation of several accessions. There were variations in seeds weight and protein content between or within species. The small seeds were most frequent in accessions of Lathyrus sativus from Asia and Africa, suggesting the center of origin Indian Subcontinent and Eastern Africa. Electrophoretic analysis showed inter and intra-specific variations. Isoenzymatic analysis revealed that the total alleles of isozymes were 34; genetic diversity was dividing between intera-accessions and inter-accessions; and the high level of gene flow revealed could be due to the high percent of out-crossing.
Protein-tyrosine kinases (PTKs) play an essential role in the intracellular mitogenic signaling mechanism. In fact, many growth factor receptors themselves have intrinsic PTK activity, as evidenced by the cases of epidermal growth factor (EGF), nerve growth factor (NGF) and stem cell factor (SCF) receptors. In contrast to these receptor-type PTKs, many PTKs do not have a transmembrane domain in their structure. These are designated as non-receptor-type PTKs or cytoplasmic PTKs. Non-receptor PTKs can be further subdivided into a number of sub- families, one of which is the Tec family. The Tec family consists of five members, namely Tec, Btk, Itk/Emt/Tsk, Bmx and Txk/Rlk. Many members of this family are abundantly expressed in hematopoietic tissues, where they are presumed to function in the growth, differentiation or both processes of blood cells. This hypothesis is strengthened by the fact that the Btk kinase molecule is responsible for X chromosome-linked agammaglobulinemia (XLA) in humans and X chromosome-linked immunodeficiency (Xid) in mice.
Citronella oil is a volatile oil obtained from the plant Cymbopogon winteratus.The oil contains approximately 30% citronella and 40% geranial.The therapeutic properties of citronella oil are antiseptic,diaphoretic,insecticidal, paracidal,deodorant,stimulatant and tonic etc.It is also used in cosmetic industry.Hence,human beings are in direct contact contact with citronella oil.Therefore,the present work was an attempt to evaluate the cytogenetic toxicity of this oil on mitotic chromosome,meiotic chromosome,sperm counting and sperm head morphology of mice Mus musculus.The result suggested that all three doses i.e 50 ppm,100 ppm and 200 ppm significantly increased the chromosomal abnormalities both in bone marrow and primary spermatocytes. Notable increase in the frequency of abnormal sperms as well as significant reduction in epididymal sperm count were also ovserved in treated mice. On the basis of above accounts it is clear that the test chemical i.e citronella oil is not fully safe. It may cause cytogenetic toxicity, mutgenicity as weel as carcinogenicity.