Poland syndrome a rare congenital anomaly
Aliyu Ibrahim, Abdallah Ramatu, Akhiwu HelenIndian Journal of Human Genetics 2013 19(3):349-351Poland syndrome is a rare congenital anomaly classically consisting of unilateral hypoplasia of the sternocostal head of the pectoralis major muscle and ipsilateral brachysyndactyly. It was first described by Alfred Poland in 1840 and may occur with different gravity. Our patient is an eight-year-old Nigerian girl with left-sided anterior chest wall defect with no detectable structural heart abnormality but presented with repeated episodes of syncopal attacks following minor trauma to the anterior chest wall. (Source: Indian Jour...
Source: Indian Journal of Human Genetics - October 30, 2013 Category: Genetics & Stem Cells Authors: Aliyu IbrahimAbdallah RamatuAkhiwu Helen Source Type: research
Mosaic double aneuploidy: Down syndrome and XYY
We report a 5-year-old boy with the clinical features of Down syndrome, which is the most common human aneuploidy. Cytogenetic analysis showed a mosaicism for a double aneuploidy, Down syndrome and XYY. The karyotype was 47, XY,+21[19]/48, XYY,+21[6]. ish XYY (DXZ1 × 1, DYZ1 × 2). Mosaic double aneuploidies are very rare and features of only one of the aneuploidies may predominate in childhood. Cytogenetic analysis is recommended even if the typical features of a recognized aneuploidy are present so that any associated abnormality may be detected. This will enable early intervention to...
Source: Indian Journal of Human Genetics - October 30, 2013 Category: Genetics & Stem Cells Authors: Mayur PariharBeena KoshyVivi Miriam Srivastava Source Type: research
Population based family history analysis of Brahmins in a small town in India for the prevalence of type-2 diabetes mellitus
Conclusion: We found a high-risk of diabetes and familial clustering in successive generations of Brahmins with prominent male sex specificity. In females onset of diabetes was coinciding with the period around menopause. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - October 30, 2013 Category: Genetics & Stem Cells Authors: Arun V PanatDilip A KulkarniRavindra B Ghooi Source Type: research
Analysis of hemoglobin electrophoresis results and physicians investigative practices in Saudi Arabia
Conclusion: The physicians are advised to rule out iron deficiency and other common causes of anemia before investigating the cases for hemoglobinopathies, which employs time consuming and expensive tests of HE and HPLC. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - October 30, 2013 Category: Genetics & Stem Cells Authors: Syed Riaz MehdiBadr Abdullah Al Dahmash Source Type: research
Genetic and molecular analysis of the CLDN14 gene in Moroccan family with non-syndromic hearing loss
Conclusion: These data show that CLDN14 gene can be i mplicated in the development of hearing loss in SF7 family; however, the pathogenicity of c.11C>T mutation remains to be determined. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - October 30, 2013 Category: Genetics & Stem Cells Authors: Majida CharifRedouane BoulouizAmina BakhechaneHouda BenrahmaHalima NahiliAbdelmajid EloualidHassan RoubaMostafa KandilOmar AbidiGuy LenaersAbdelhamid Barakat Source Type: research
Linkage study of DFNB3 responsible for hearing loss in human
Conclusion: Knowledge about the genetic causes of deafness provide insight into the variable expression of genes involved in this hereditary problem and may allow the prediction and prevention of associated health problems. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - October 30, 2013 Category: Genetics & Stem Cells Authors: Akhtar AliMasroor E BabarSaeeda KalsoomJamil AhmadKamran Abbas Source Type: research
No CAG repeat expansion of polymerase gamma is associated with male infertility in Tamil Nadu, South India
J PoongothaiIndian Journal of Human Genetics 2013 19(3):320-324Mitochondria contains a single deoxyribonucleic acid (DNA) polymerase, polymerase gamma (POLG) mapped to long arm of chromosome 15 (15q25), responsible for replication and repair of mitochondrial DNA. Exon 1 of the human POLG contains CAG trinucleotide repeat, which codes for polyglutamate. Ten copies of CAG repeat were found to be uniformly high (0.88) in different ethnic groups and considered as the common allele, whereas the mutant alleles (not -10/not -10 CAG repeats) were found to be associated with oligospermia/oligoasthenospermia in male infertility. Rec...
Source: Indian Journal of Human Genetics - October 30, 2013 Category: Genetics & Stem Cells Authors: J Poongothai Source Type: research
Index of opportunity for natural selection among the Gowdas of Kodagahalli village, Karnataka, India
Discussion: The index of total selection intensity (I) was found to be moderate taking into consideration the range for many Indian populations. Considering certain differences in fertility and mortality heritable, it appears that natural selection play an important role in shaping the genetic constitution of the Gowda population. Analysis of data indicates that the index due to fertility seems to contribute more towards selection than mortality. This trend might be because of better living condition and health-care system among the Gowdas which have a positive impact on the lower contribution of mortality for the evolutio...
Source: Indian Journal of Human Genetics - October 30, 2013 Category: Genetics & Stem Cells Authors: Bhaboklang Sohkhlet Source Type: research
Phenotypic spectrum in uniparental disomy: Low incidence or lack of study?
Conclusions: The role of UPD in human genetic disorders needs to be studied by involving larger cohorts of individuals with birth defects as well as normal population. The genetic conditions were scrutinized in terms of inheritance patterns; majority of these were autosomal recessive indicating the role of UPD as an underlying mechanism. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - October 30, 2013 Category: Genetics & Stem Cells Authors: Arpan D BhattThomas LiehrSonal R Bakshi Source Type: research
Inter and intra ethnic variation of vitamin K epoxide reductase complex and cytochrome P450 4F2 genetic polymorphisms and their prevalence in South Indian population
Conclusion: The findings of our study provide the basic genetic information for further pharmacogenetic based investigation of OA therapy in the population. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - October 30, 2013 Category: Genetics & Stem Cells Authors: Dhakchinamoorthi Krishna KumarDeepak Gopal ShewadeSajjanavar ManjunathPrayaga UshakiranGangadharan ReneegaChandrasekaran Adithan Source Type: research
Polymorphism at P21 codon 31 and dinucleotide polymorphism of P73 gene and susceptibility to bladder cancer in individuals from North India
Conclusion: Our study provided evidence that the p73 G4C14 > A4T14 (Exon2) polymorphisms were associated with higher risk of BC in North Indian population. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - October 30, 2013 Category: Genetics & Stem Cells Authors: Praveen Kumar JaiswalVibha SinghRama Devi Mittal Source Type: research
Usage of U7 small nuclear ribonucleic acid in gene therapy of hemoglobin D Punjab disorder: Rationale?
Conclusion: Here, there is a rationale to use U7 small nuclear ribonucleic acid as a possible tool for gene therapy in Hb D Punjab disorder. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - October 30, 2013 Category: Genetics & Stem Cells Authors: Viroj Wiwanitkit Source Type: research
An overview of gene therapy in head and neck cancer
The objective of this article is to provide an overview of the current available gene therapies for head and neck cancer. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - October 30, 2013 Category: Genetics & Stem Cells Authors: Amit BaliDeepika BaliAshutosh Sharma Source Type: research
Hemoglobin E disorder: Newborn screening program
Viroj WiwanitkitIndian Journal of Human Genetics 2013 19(3):279-281Hemoglobin E (Hb E) disorder is an important kind of hemoglobinopathy. It can be seen around the world with the highest prevalence in Southeast Asia. The screening for this disorder becomes the public health policies in many countries. The screening can be performed in several population groups. The newborn screening program for Hb E disorder is an important issue in pediatric genetics. In this brief review, the author discusses on important laboratory tests for screening for Hb E disorder in newborn. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - October 30, 2013 Category: Genetics & Stem Cells Authors: Viroj Wiwanitkit Source Type: research
Warfarin pharmacogenetics: How close are we to clinical practice?
Tejasvita Gaikwad, Shrimati Shetty, Kanjaksha GhoshIndian Journal of Human Genetics 2013 19(3):277-278 (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - October 30, 2013 Category: Genetics & Stem Cells Authors: Tejasvita GaikwadShrimati ShettyKanjaksha Ghosh Source Type: research
