Study of Dystrophinopathy in Eastern Uttar Pradesh Population of India.

INTRODUCTION: The frequency and distribution of dystrophin gene deletions vary in patients with Duchene/Becker muscular dystrophy (DMD/BMD). OBJECTIVE: In this study, we aimed to analyze clinical, biochemical, and dystrophin gene deletion pattern, by using multiplex polymerase chain reaction (PCR) in the population of eastern Uttar Pradesh and the adjoining districts of Bihar and Madhya Pradesh. MATERIAL AND METHOD: After clinical assessment, 225 patients of DMD/BMD were analyzed for deletion in dystrophin gene. Clinical features and biochemical parameters were noted. For genetic study, all samples were tested for deletion from 25 exons of DMD gene by using multiplex PCR. RESULT: Deletions were detected in 169 (75.1%) patients of DMD/BMD. Deletions were observed in both proximal and mid-distal hot spot regions with maximum deletion localized in the mid-distal hot spot region of the gene. The most frequent deletions were observed in exon 50 (14.9%) and exon 49 (10.8%). CONCLUSION: This study concludes that mid-distal region of dystrophin is highly polymorphic in the population of eastern Uttar Pradesh and responsible for pathogenesis of DMD. The population of eastern Uttar Pradesh shows similar pattern of deletion in dystrophin gene when compared with other ethnic groups of the Indian population.

Sex estimation from the mastoid process among North Indians.

Determination of sex from fragmentary crania is a critical problem in forensic anthropology. Osteometric analysis of mastoid can serve forensic anthropologists better in sex identification by virtue of the noticeable dimorphic characteristics. The present study aims to develop population-specific, sex-differentiating anthropometric standards for the mastoid process of North Indian skulls. Eight parameters of the mastoid region were measured on 138 adult crania (M/F 104:34, 22-65 years) and analyzed using SPSS 16.0. All parameters showed significant sexual dimorphism (p < 0.000). In stepwise analysis, asterion-mastoidale and mastoid breadth have provided an accuracy of 87%. Receiver operating characteristic curves were obtained for each variable to observe their overall performance in sex determination. Posterior end of incisura mastoidea-depression of suprameatal triangle was found to be the best variable with maximum area under curve and highest predictive accuracy (82.6%).

An osteometric study of northern Indian populations for sexual dimorphism in craniofacial region.

Sex identification is an initial crucial objective in the revelation of the complete identity of the human skeleton as it also renders significantly clearer guidance towards age and stature estimation. Population specific standards are of great practical relevance in the present era of increasing population intermixing. Size differences and robusticity are the two well-elaborated pillars holding most of the dimorphic burdens of the skull. This study is designed to explore dimorphic characteristics of the craniofacial region to establish anthropometric standards for contemporary North Indian populations, which have not been available so far. One hundred and twelve adult crania of known age (23-65 years) and sex (M:F; 82:30) were collected in the Department of Forensic Medicine, Institute of Medical Sciences, Banaras Hindu University, Varanasi, India. Ten standard metric parameters of craniofacial region were measured and subjected to stepwise and direct discriminant function analysis employing SPSS 16.00. Bizygomatic breadth emerged as the single best parameter in stepwise analysis, providing an average accuracy of 85.5%.

Mandibular ramus: an indicator for sex in fragmentary mandible.

Mandible is the hardest and most durable bone of the skull exhibiting a high degree of sexual dimorphism. Especially ramus of mandible is subjected to greater stress than any other bone of the skull because of the process of mastication. This study has been performed to establish the osteometric standards for practical use in forensic context over Indian population using mandibular ramus. The sample consists of 116 mandibles of Northern Indian population (M:F; 92:24, mean age 37.4 years), collected from the Department of Forensic Medicine, IMS, BHU, Varanasi. Osteometric informations about five metric parameters (coronoid height, projective height, condylar height, and maximum breadth and minimum breadth of ramus) were taken with sliding calipers. These parameters were subjected to different discriminant function analysis using SPSS 16.0. All parameters showed significant sexual dimorphism (p < 0.001 in all cases) with an overall accuracy of 80.2%, and coronoid height was the single best parameter providing an accuracy of 74.1%.