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   2007| September-December  | Volume 13 | Issue 3  
    Online since February 6, 2008

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Identification of a rare blood group, "Bombay (Oh) phenotype," in Bhuyan tribe of Northwestern Orissa, India
RS Balgir
September-December 2007, 13(3):109-113
DOI:10.4103/0971-6866.38985  PMID:21957358
Background: Blood group serology plays a vital role in transfusion medicine. The Bombay (Oh) phenotype is characterized by the absence of A, B, and H antigens on red cells and occurs rarely, especially in tribal populations of India. Aims and Objectives: This is a field-based random population study in the Bhuyan tribal community. The study reports three cases of the rare Bombay (Oh) phenotype for the first time in the Bhuyan tribe of Sundargarh district in North-Western Orissa. Materials and Methods: Taking informed consent, red blood cells of 836 Bhuyan subjects were tested with three antisera, i.e., anti-A, anti-B, and anti-H (lectin) for forward reaction. Agglutinations of plasma with A, B, and O (H) red cells (reverse reaction) were also tested for the presence or absence of antibodies in the serum. Specialized tests like absorption-elution, titration of naturally occurring antibodies at different temperatures, inhibition of anti-H by O saliva secretor, and determination of secretor status were performed. Results: Three cases of a rare blood group, Bombay (Oh) phenotype, (2 out of 244 Khandayat Bhuyan and 1 out of 379 Paudi Bhuyan from Hemgiri and Lahunipara blocks, respectively) in the Bhuyan tribe of Sundargarh district in North-Western Orissa were detected, giving an incidence of 1 in 122 in Khandayat Bhuyan and 1 in 379 in Paudi Bhuyan, with an average of 1 in 278 among the Bhuyan tribal population. This incidence is high in comparison to earlier studies reported from India. Conclusions: The practice of tribal and territorial endogamy in a smaller effective populations (for example, there are only 3,521 individuals in Paudi Bhuyan) results in smaller marital distance and inbreeding, leading to increased homozygous expression of rare recessive genetic characters like the Bombay (Oh) phenotype. This study further testifies that the incidence is higher in those states of India where the consanguinity is a common practice.
  28,044 418 4
DNA profiling: Social, legal, or biological parentage
AK Sharma
September-December 2007, 13(3):88-92
DOI:10.4103/0971-6866.38981  PMID:21957354
DNA profiling in forensic casework is based on comparison of the results of biological evidence with direct reference samples of the individual concerned or with indirect references of his close blood relatives. The selection of reference samples for analysis is crucial to the success of a case; it not only depends on the authenticity of the reference samples, but also on the authenticity of the biological relation of the donors with the person in question. There are situations when the social or legal relationship is not the biological one and there is a need to educate investigating officers, forensic analysts, and the judiciary about the associated problems.
  8,739 448 2
Possible risk factors for Down syndrome and sex chromosomal aneuploidy in Mysore, South India
Suttur S Malini, Nallur B Ramachandra
September-December 2007, 13(3):102-108
DOI:10.4103/0971-6866.38984  PMID:21957357
Background: Down syndrome (DS) and sex chromosomal aneuploidy (SA) are common chromosomal anomalies causing congenital malformations and mental retardation in humans. The well-established risk factor, advanced maternal age, was not found in many of the DS and SA cases in India, while the other possible risk factors have not been well studied. In view of this, the present study has been made. Materials and Methods: During the last 5 years, 150 clinically suspected DS and 25 SA cases were referred to our laboratory for chromosome investigation from major hospitals of Mysore city. Chromosome preparations were made from these patients after informed consent was obtained. Well-spread G-banded metaphase plates were analyzed by automated LEICA KARYO software. Two hundred and 100 randomly selected families belonging to different religions were used as controls for the DS and SA cases, respectively. Statistical analysis was carried out using logistic regression Results: Out of the 150 cases of DS, 122 had free trisomy 21, two were mosaic trisomy 21, and one had translocation. Logistic regression of case-control study of DS children revealed that the odds ratio of uncle-niece marriages, or second cousin marriages, or parents lived in rural region, or exposure of the parents to chemicals, or parents education status, or habits (tobacco/ alcohol used) of father, or mother not undergone prenatal scanning, or mothers with previous abortions were significant when all the variables of that category were used one at a time. Exposure of the parents to chemicals, parents' educational status, habits (tobacco/alcohol use) of the father, mother not undergone prenatal scanning, and history of previous abortions were significant when all the variables of that category were used one at a time. Similarly, except for consanguinity, history of previous abortions, and mother not undergone prenatal scanning, all other factors showed significant odds ratios in SA cases. Conclusion: Besides the known risk factors, consanguinity, region (rural/urban) of residence of parents, exposure of parents to chemicals, educational status of parents, habits of father, prenatal scanning, and reproductive performance of mother are possible risk factors for chromosomal aneuploidy.
  7,471 263 3
Coagulation disorders seen through the window of molecular biology
Kanjaksha Ghosh
September-December 2007, 13(3):81-87
DOI:10.4103/0971-6866.38980  PMID:21957353
Coagulation disorders have been traditionally worked up by their clinical phenotypes and coagulation factor assays which are dependent on APTT- and PT-based techniques. Development of chromogenic substrates in the late seventies and early eighties allowed coagulation factors to be measured like enzymes. There was still a major lacuna in the understanding of the biology of different coagulation disorders. Modern molecular biology - which developed as an unique synthesis of biochemistry, immunology, cell biology, and genetics - allowed us to have a more comprehensive understanding of the pathobiology of many of these coagulation disorders. This overview presents several examples which show how we have enriched our understanding about the varied clinical phenotypes of different coagulation disorders.
  6,144 390 -
Can parallel mutation and neutral genome selection explain Eastern African M1 consensus HVS-I motifs in Indian M haplogroups
Clyde Winters
September-December 2007, 13(3):93-96
DOI:10.4103/0971-6866.38982  PMID:21957355
  4,815 99 1
Bombay phenotype in Orissa: What could we make out of it?
Kanjaksha Ghosh, K Vasantha
September-December 2007, 13(3):79-80
DOI:10.4103/0971-6866.38979  PMID:21957352
  4,352 275 -
Mowat-Wilson syndrome in a Moroccan consanguineous family
Ilham Ratbi, Chafai Siham Elalaoui, Moal Florence Dastot-Le, Michel Goossens, Irina Giurgea, Abdelaziz Sefiani
September-December 2007, 13(3):122-124
DOI:10.4103/0971-6866.38988  PMID:21957361
Mowat-Wilson syndrome is a mental retardation-multiple congenital anomaly syndrome characterized by a typical facies, developmental delay, epilepsy, and variable congenital malformations, including Hirschsprung disease, urogenital anomalies, congenital heart disease, and agenesis of the corpus callosum. This disorder is sporadic and is caused by heterozygous mutations or deletions of the ZFHX1B gene located in the 2q22 region. We report here the first Moroccan patient, born to consanguineous parents, with Mowat-Wilson syndrome, due to a de novo, unreported mutation of the ZFHX1B gene.
  4,338 123 -
Rett syndrome molecular diagnosis and implications in genetic counseling
M Noruzinia, MT Akbari, M Ghofrani, H Sheikhha
September-December 2007, 13(3):119-121
DOI:10.4103/0971-6866.38987  PMID:21957360
Rett syndrome is a rare genetic X-linked dominant disorder. This syndrome is the most frequent cause of mental retardation in girls. In the classical form of the disease, the presenting signs and the course of development are characteristic. However clinical diagnosis can be very difficult when the expression is not in the classical form. Mutations in MeCP2 are responsible for 80% of cases. When MeCP2 mutation is found in an index case, genetic counseling is similar to that in other X-linked dominant genetic diseases. However, mutations in this gene can cause a spectrum of atypical forms. On the other hand, other genetic conditions like translocations, sex chromosome numerical anomalies, and mutations in other genes can complicate genetic counseling in this syndrome. We present the first case of molecular diagnosis of Rett syndrome in Iran and discuss the recent developments in its genetic counseling.
  3,937 187 2
Emergence of an unrelated highly aberrant clone in an AML patient at relapse four months after peripheral blood stem cell transplantation
Pratibha S. Amare Kadam, Hemani V Jain, Purvish M Parikh, Tapan K Saikia, Sandhya Agarwal, Indu Ambulkar
September-December 2007, 13(3):114-118
DOI:10.4103/0971-6866.38986  PMID:21957359
We report a case of AML-M1 with 5q aberration at diagnosis. The patient was treated with high-dose chemotherapy (HDCT). After remission induction, he received allogenic peripheral blood stem cell transplantation (PBSCT) from an HLA-match donor brother. The successive follow-up conventional cytogenetics investigations in remission after HDCT and PBSCT revealed cytogenetic remission. The most interesting observation in this case is that relapsed marrow revealed the emergence of an entirely new, highly aberrant, unrelated clone with unusual translocations t(6;17)(p23;p11.2),+8,der(8)dup inv(8)(q23qter), t(10;19)(q26;q13.3) 4 months after PBSCT. Our findings suggest the possibility of a mutagenic effect of HDCT and myeloablative intense chemotherapy before PBSCT that could have induced a genetic lesion in the recipient's genetically unstable stem cells in an environment of immunosuppression. The highly complex nature of the clone and the rapid clonal evolution indicates the possibility of selective pressure with proliferative advantage.
  3,918 141 1
PvuII polymorphism of estrogen receptor-α gene in breast cancer
D Surekha, S Vishnupriya, D Nageswara Rao, K Sailaja, D Raghunadharao
September-December 2007, 13(3):97-101
DOI:10.4103/0971-6866.38983  PMID:21957356
Background: Estrogen receptor (ER) is a ligand-inducible transcription factor that mediates estrogen action in target tissue. Several common polymorphisms of the ERα gene have been reported to be associated with alterations in receptor expression in breast cancer. Materials and Methods: A case-control study was designed to compare 250 breast cancer patients with 250 age-matched healthy controls. The frequency distribution of PvuII polymorphism in the ERα gene was assessed by PCR-RFLP method. Results: The frequency of the PP genotype (35.3%) was increased significantly in breast cancer patients when compared to controls (19.8%), with a corresponding increase in P allele frequency (χ2 = 16.4; P = 0.0003). The OR for genotypes PP vs. Pp was 1.989 (95% CI: 1.2708 to 3.113). Premenopausal women with breast cancer had an elevated frequency of the PP genotype (22.8%) as compared to postmenopausal women (16.8%). The frequency of the PP genotype was increased in patients positive for ER and HER-2/neu as compared to those with receptor-negative status. The pp and p allele frequencies were increased in progesterone-receptor-negative status. When stage of the disease was considered, both Pp and pp genotype frequencies were elevated in patients with advanced stage breast cancer. The frequency of the P allele and PP genotype frequencies tended to increase with increase in body mass index, whereas the Pp genotype frequency was elevated only in obese patients. The reverse was observed in the case of pp genotype frequency. Conclusion: The study thus highlighted the influence of ERα PvuII polymorphism on the development and progression of breast cancer.
  3,712 239 4
Translocation t(2;14)(p13;q32) in a case of Ph+ acute lymphoblastic leukemia
Lily Kerketta, Babu Rao Vundinti, Kanjaksha Ghosh
September-December 2007, 13(3):125-126
DOI:10.4103/0971-6866.38989  PMID:21957362
  3,169 115 -
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