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2008| January-April | Volume 14 | Issue 1
August 2, 2008
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Can novel Apo A-I polymorphisms be responsible for low HDL in South Asian immigrants?
Sunita Dodani, Yanbin Dong, Haidong Zhu, Varghese George
January-April 2008, 14(1):9-15
Coronary artery disease (CAD) is the leading cause of death in the world. Even though its rates have decreased worldwide over the past 30 years, event rates are still high in South Asians. South Asians are known to have low high-density lipoprotein (HDL) levels. The objective of this study was to identify Apolipoprotein A-I (Apo A-I) polymorphisms, the main protein component of HDL and explore its association with low HDL levels in South Asians. A pilot study on 30 South Asians was conducted and 12-h fasting samples for C-reactive protein, total cholesterol, HDL, low-density lipoprotein (LDL), triglycerides, Lipoprotein (a), Insulin, glucose levels, DNA extraction, and sequencing of Apo A-I gene were done. DNA sequencing revealed six novel Apo A-I single nucleotide polymorphisms (SNPs) in South Asians, one of which (rs 35293760, C938T) was significantly associated with low (<40 mg/dl) HDL levels (
= 0.004). The association was also seen with total cholesterol (
= 0.026) and LDL levels (
= 0.032). This pilot work has highlighted some of the gene-environment associations that could be responsible for low HDL and may be excess CAD in South Asians. Further larger studies are required to explore and uncover these associations that could be responsible for excess CAD risk in South Asians.
A cytogenetic study of couples with recurrent spontaneous abortions and infertile patients with recurrent IVF/ICSI failure
Hossein Mozdarani, Anahita Mohseni Meybodi, Shabnam Zari-Moradi
January-April 2008, 14(1):1-6
This study was conducted to determine the frequency and contribution of chromosomal abnormalities in miscarriages and in couples with recurrent
fertilization/intra cytoplasmic sperm injection (IVF/ICSI) failure.
Materials and Methods:
A total of 221 individuals; 79 with three or more recurrent spontaneous abortions and 142 with at least three IVF/ICSI failures. Chromosomal analysis from peripheral blood lymphocytes was performed according to standard cytogenetic methods using G-banding technique.
Abnormal karyotype was found in 21 (9.50%) individuals. Of these 21 subjects, 4 (19.04%) exhibited sex chromosomal abnormalities and 17 (80.96%) had autosomal abnormalities. Male partners had significantly higher chromosomal abnormalities (5.88%) than of females (3.61%). These abnormalities were also higher in patients with recurrent spontaneous abortions than with IVF/ICSI failure (
These data may be indicative that chromosomal abnormalities are involved more in spontaneous abortions than in recurrent IVF/ICSI failure. Cytogenetic analysis could be valuable for these couples when clinical data fail to clarify the cause.
Cornelia de lange syndrome
January-April 2008, 14(1):23-26
Cornelia de Lange syndrome (CDLS) is a rare multiple congenital anomaly syndrome characterized by a distinctive facial appearance, developmental delay, growth retardation, low birth weight, skeletal formation anomaly, and hirsutism.
Here for the first time a case of CDLS from Iran, a 15-week-old male infant who was refereed as a case of multiple congenital anomalies. Clinical investigation showed that the child was a case of CDLS.
This is the first case report with CDLS in Iran.
A386G transition in
gene is not associated with spermatogenic failure in Tamil Nadu, South India
J Poongothai, TS Gopenath, S Manonayaki
January-April 2008, 14(1):16-19
) gene located on the short arm of autosomal chromosome 3 (3p24), an essential master gene for the premeiotic development of male and female germ cells, is the father of the Y-chromosome
gene cluster and encodes for RNA-binding proteins. Reported instances of positive association of
gene mutations with infertility in men have been found in a Taiwanese population but not in Caucasians. There is no study from Tamil Nadu, South India, to demonstrate the role of
gene in male infertility; we, therefore, analyzed a total of 287 men, including 147 infertile and 140 normozoospermic fertile controls from rural areas of Tamil Nadu, South India, to assess the phenotypic effect of
mutations in this region of the world. Interestingly, all our samples showed absence of the A386G (T54A) mutation that was found to be associated with spermatogenic failure in the Taiwanese population. Therefore, we suggest that the A386G (T54A) mutation is not associated with male infertility in Tamil Nadu, South India.
A case of acute myeloid leukemia-M2 with trisomy 4 in addition to t(8;21)
PJ Trivedi, PS Patel, MM Brahmbhatt, BP Patel, SB Gajjar, RR Iyer, EH Parikh, SN Shukla, PM Shah, SR Bakshi
January-April 2008, 14(1):20-22
t(8;21)(q22;q22) is the most frequently observed karyotypic abnormality associated with acute myeloid leukemia (AML), specifically in FAB-M2. Short-term unstimulated bone marrow (BM) and peripheral blood lymphocyte culture showed 47,XX, +4,t(8;21) in all metaphase plates; and interphase and metaphase results of
fusion was positive and trisomy of 4 was confirmed with WCP probes. Trisomy 4 in AML with t(8;21) is a rare numerical abnormality. Here we present such case of patient which may constitute a distinctive subtype.
LETTERS TO THE EDITOR
Ahmet Okay Caglayan, Munis Dundar
January-April 2008, 14(1):27-29
Radial aplasia with oligodactyly
Inusha Panigrahi, Ketan Prasad Kulkarni
January-April 2008, 14(1):29-30
Reactivation of inactive X chromosome in buccal smear of carcinoma of breast
Prashant E Natekar, Fatima M DeSouza
January-April 2008, 14(1):7-8
Buccal mucosal smears of 100 female patients of carcinoma of breast were compared with 100 controls matched accordingly. The frequency of Barr bodies was significantly lower in carcinoma of breast patients (menstruating and menopausal women)
< 0.001 when compared with controls indicating reactivation of the inactive X chromosome.
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