ABSTRACT
To reconstruct and explain patterns of genetic diversity of modern humans, understanding their past and present geneticprofile is crucial. While genomes of contemporary people can provide information about present day population structure,analysis of ancient genomes may provide unprecedented insights about the past demographic events that have shaped thecontemporary gene pool. Population genetics has recently witnessed an explosion in studies on ancient human populationhistories, primarily from Europe and America. South Asia has no representation in the ancient genomics literature, despitethe wealth of archaeological richness in the form of human skeletal remains that exist in collections all over the country.Representing one-fifth of present day humanity calls for understanding the demographic history of south Asia not merely asa prerequisite but as an urgent need to understand its genetic variations on a global scale. Although the overall picture istaking form, new archaeological and genetic information from the region has started to reveal a more complex scenario ofancient human migrations and admixtures than was ever known before. In this article, we discuss a meaningful insight onthe current status of ancient DNA (aDNA) research in India. We have also summarized a few but important aDNA studies,which have been successfully carried out in India. Furthermore, we have highlighted the potential opportunity of aDNAresearch in the Indian subcontinent.
ABSTRACT
Retinoblastoma has an increased inheritance risk of germline RB1 mutations in offspring and siblings, especially twins. Three families, each having one retinoblastoma-affected twin, were selected for genetic analysis and DNA profiling. Germline RB1 mutations were found in all probands. DNA profiling carried on similar-looking twins of families I and II, proved them to be fraternal. This study demonstrates the importance of genetic analysis of RB1 gene for risk prediction in retinoblastoma families. It also emphasizes that DNA profiling is a mandate for genetic screening of families with twins, thus adding a new dimension in counseling of retinoblastoma.
ABSTRACT
It is a prospective, radiological study of age assessment of 151 cases of young adolescents (Boy = 70; Girl = 81) in the age range of 14-17 years by taking A-P view X-rays of their right wrist including hands. This study had resulted in considerable narrowing of the range of radiological age assessed using the X-ray of the hand, from 15 years 19 years to 14 years – 17 years in both boys and girls. Our finding was also consistent with the age from the available date of birth certificates of these students.
ABSTRACT
We describe the clinical presentation, course and pathologic findings found in three adult patients with lipid storage myopathy. Excessive lipid storage was found in Type 1 fibers of muscle. Clinical improvement on oral levo-carnitine therapy suggests the possibility of carnitine deficiency as the most likely etiology in two of the patients and one had mitochondrial myopathy confirmed on genetic analysis.