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Facio Auricular Vertebral (FAV) or Goldenhar syndrome is a very rare kind of syndromic deafness and is inherited as autosomal dominant. A study was taken up to understand the prevalence of this syndrome in children below the age of 14 years with hearing loss. Out of 1073 children with hearing impairment, Goldenhar syndrome was observed only in 1 (0.09%) case. The child suffered severe hearing loss. Facial paralysis and hemifacial microsomia were prominent features observed in the child. Facio-Auricular-Vertebral syndrome is therefore synonymously used with Goldenhar syndrome.

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Background: The aetiology of NIDDM is believed to be as a consequence of genetic and environmental factors that impair metabolism. While little can be done on the genetic component, much can be done as a preventive measure in NIDDM. Because nothing much can be done prenatally, researchers have resorted to studying physical variables like dermatoglyphics (DGs). Dermatoglyphic patterns form on the finger pad and the palm prenatally and remain unchanged throughout life, thus these features may serve as markers for fetal origin of adult disease like NIDDM. Thus the concept of fluctuating asymmetry (FA) which has been defined as random differences between the right (R) and left (L) sides of a morphological trait has gained prominence in diseases like schizophrenia. When the distribution of R-L differences in a population sample approximates a normal curve with a mean approximately equal to zero, the variance of distributions of R-L difference is a measure of FA. Studies have shown that genetic factors may also have a link to FA in finger and a-b ridge counts. No studies have been reported on FA in NIDDM. FA derived from quantitative parameters in DGs of NIDDM may throw light on fetal origins of an adult disease. Hence this study has been undertaken. Aim: The present study aims at deriving FA from quantitative parameters in DGs of NIDDM compared to controls in the Bangalore based population. Materials and Methods: Bilateral rolled finger and palm prints of 150 NIDDM patients (Males - 75, Females - 75) were compared to 120 controls (Males - 60, females -60) from Bangalore based population. FA measures derived from quantitative parameters (finger ridge counts, a-b ridge counts, main line index and palmar angles) were analysed. Results: Comparisons were made in all parameters between homologous fingers of both hands using Pearson's product moment correlation coefficients (r). The difference in correlation coefficients between cases and controls was calculated using Fisher's Z transformation. 1-r2 an estimate of error variance thus measures FA. FA measures were significantly higher in NIDDM males for the 5th finger (FA=2.04) and for the palmar angle 'dat' (FA=2.24); for the NIDDM female a high FA was found in the 2nd finger (FA=2.17) compared to controls. CONCLUSION: Overall measures of the above ridge counts and angles and their derived measures of FA were prominent features of NIDDM in this sample.

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Compound heterozygosity for bS/bD results in a severe hemolytic anemia and a clinical syndrome similar to that of sickle cell disease. Here, we report a case of HbSD Punjab disease. A 10 year old female child residing at Nagpur, Maharashtra presented with severe hemolytic anemia, hepatosplenomegaly and occasional pains in bones and abdomen. Initially, she was thought to be a case of sickle cell anemia, however, with the help of HPLC and molecular analysis it was confirmed as HbSD Punjab disease.

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Background: The tribal communities of South India are considered to be the original inhabitants of the Indian sub-continent, belonging to the most primitive Dravidian speaking communities. These Dravidian speaking forest dwelling tribal populations have remained isolated from any intermingling with other non-tribal communities. Aims and Objectives: We propose to understand the evolutionary processes mediated by molecular, functional and immunological information based on human leukocyte antigen (HLA) genetic system. Material and Methods: The HLA-A diversity was analyzed in seven Dravidian tribal populations namely Malapandaram, Paniya, Kurichiya, Kanikkar, Adiya, Kattunaikka and Kuruma of Kerala, South India using the PCR-SSP method. The tribal communities were compared with a group comprising of random non-tribal Dravidian samples of southern India. Results: In the present study, 11 HLA-A alleles were identified in the South Indian population. The most frequent alleles included HLA-A*24, A*02, A*33 and *A11. HLA-A*24 had the highest frequency in all the tribal groups while, A*02 was the highest frequency allele in the RND group. The haplotype Cw*14-A*24 was present in all the populations. The three-locus haplotype B*52-Cw*14-A*24 was observed in all the populations except Kurichiya and Kanikkar. Conclusion: The study suggests that the RND population is highly diverse and more likely to have an admixed origin.

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Background: Dyslexia is a major educational problem, but the studies on genetics of dyslexia are very limited in India. There is a great dearth of proper statistical data to show the incidence of dyslexia in Indian population. More over inheritance pattern of dyslexia is not well established in our population. Aims & Objective: To establish the inheritance pattern of dyslexia in 23 selected families. Materials and Methods: We have ascertained 23 dyslexic probands and their families from the state of Karnataka. Individuals with above 8 years of age, normal performance intelligence quotient (>85) and remarkable deviation in reading and writing skills compared to chronological age were considered for the study. Based on the genetic registry pedigrees of the families were constructed. Results: Based on the affectedness, the dyslexia phenotypes were classified into four types: severe reading spelling deficit, mild reading spelling deficit, severe spelling deficit and mild spelling deficit. Severe dyslexia phenotypes were more frequent than mild phenotypes. Mild spelling deficits were better compensated than the other types. It was found that autosomal dominant inheritance pattern of dyslexia was more prevalent than autosomal recessive and sporadic pattern in the present study. Conclusion: Family history of dyslexia is a consistent risk factor; therefore this knowledge can be applied to the prevention and remediation of dyslexia.

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Background: Gain of the q arm of chromosome 20 in human colorectal cancer has been associated with poorer survival time and has been reported to increase in frequency from adenomas to metastasis. The increasing frequency of chromosome 20q amplification during colorectal cancer progression and the presence of this amplification in carcinomas of other tissue origin has lead us to hypothesize that 20q11-13 harbors one or more genes which, when over expressed promote tumor invasion and metastasis. Aims: Generate genomic and expression profiles of the 20q amplicon in human cancer cell lines in order to identify genes with increased copy number and expression. Materials and Methods: Utilizing genomic sequencing clones and amplification mapping data from our lab and other previous studies, BAC/ PAC tiling paths spanning the 20q amplicon and genomic microarrays were generated. Array-CGH on the custom array with human cancer cell line DNAs was performed to generate genomic profiles of the amplicon. Expression array analysis with RNA from these cell lines using commercial oligo microarrays generated expression profiles of the amplicon. The data were then combined in order to identify genes with increased copy number and expression. Results: Over expressed genes in regions of increased copy number were identified and a list of potential novel genetic tumor markers was assembled based on biological functions of these genes Conclusions: Performing high-resolution genomic microarray profiling in conjunction with expression analysis is an effective approach to identify potential tumor markers.

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Background: The allele frequencies in human populations are used in different areas such as population genetics, forensic genetics and anthropological studies. Various different populations have been investigated their allele frequency distributions of polymorphic traits. Aims and Objectives: The allele frequency distributions of four red cell enzyme (ACP1, PGM1, GLO1, ESD) and two serum protein systems (HP, PI subtypes) were analyzed in Turkish population from Adana area, Turkey, in order to enlarge our knowledge on the genetic composition of Turkish population. Material and Methods: Venous blood samples taken from 200 unrelated Turkish individuals were transported to the Forensic Serology Laboratory of Albert Szent-Gy φrgyi Medical University (Szeged/Hungary) for phenotyping. The phenotypes of ACP1, PGM1, GLO1, ESD, and HP systems were determined by means of starch gel electrophoresis, while PI subtypes were obtained by polyacrylamide gel isoelectric focusing method. The allele frequencies were calculated by gene counting. Results: The calculated frequencies of the alleles are as follows: ACP1*A = 0.250 ± 0.021, ACP1 *B = 0.693 ± 0.023, ACP1 *C = 0.057 ± 0.011; PGM1 *1 = 0.710 ± 0.022, PGM1*2 = 0.288 ± 0.022, PGM1*6 = 0.002 ± 0.002; GLO1*1 = 0.373 ± 0.024, GLO1*2 = 0.627 ± 0.024; ESD*1 = 0.805 ± 0.019, ESD*2 = 0.195 ± 0.019; HP*1 = 0.265 ± 0.022, HP*2 = 0.735 ± 0.022; PI*M1 = 0.887 ± 0.015, PI*M2 = 0.010 ± 0.004, PI*M3 = 0.095 ± 0.014, PI*S = 0.008 ± 0.004. Conclusions: The comparison of the data with those of Asian and European populations showed that the allele frequencies of ACP1, ESD and HP are similar or close to those of Asian populations, whereas those of PGM1 and PI come close to European populations. The allele frequency of GLO1 system is inbetween those of Asians and Europeans

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