محمد حسن زاده نظرآبادی
استاد گروه ژنتیک پزشکی، دانشکده پزشکی، دانشگاه علوم پزشکی مشهد، مشهد، ایران.
[ 1 ] - عدم ارتباط بین رد مکرر لانهگزینی جنین به دنبال IVF با پلیمورفیسم ژن (P53 Arg72Pro)
مقدمه: شکست مکرر در لانهگزینی (RIF)، شایع ترین علت عدم موفقیت بارداری بعد از لقاح آزمایشگاهی است. از میان علل مختلف RIF، نقش عوامل ژنتیکی مادر به عنوان یکی از مهمترین عوامل است. یکی از پلیمورفیسم های مطرح در این زمینه، پلیمورفیسم کدون 72 ژن P53 میباشد. با توجه به مدارک موجود در مورد ارتباط این پلی مورفیسم با افزایش خطر وقوع RIF در جمعیت های مختلف در صورت اثبات این ارتباط در جمعیت ایرانی می...
[ 2 ] - مقایسه سقطهای تکراری باعلت ناشناخته در ازدواج های خویشاوندی و غیر خویشاوندی
مقدمه :سقط خودبخود به ختم بارداری قبل از هفته بیستم اطلاق می گردد . عوامل متعددی نظیر : ناهنجاریهای آناتومیک رحمی، عفونتها، فاکتورهای ایمونولوژی و اندوکرینی، اختلالات کروموزومی و ژنتیکی در پیدایش آن نقش دارند .حضور جابجایی متعادل کروموزومی علت 2 تا 3 درصد سقط های خودبخود شناخته شده است . اختلالات ژنتیکی مغلوب اتوزومی با افزایش هموزیگوسیتی عامل دیگری در سقط های خودبخود به شمار می آید. هدف از...
[ 3 ] - Teratogenic Effects of Sulfur Mustard on Mice Fetuses
Sulfur Mustard (SM) has been used as a chemical warfare agent, in the World War I and more recently during Iraq-Iran war in early 1980s’. Its biological poisoning effect could be local or systemic and its effect depends on environmental conditions, exposed organs, and the extent and duration of exposure. It is considered as a strong alkylating agent with known mutagenic, carcinogenic effects; a...
[ 4 ] - The Survey of Double Robertsonian Translocation 13q; 14q in the Pedigree of 44; XX Woman: A Case Report
Robertsonian translocations (RBT) are associated with an increased risk of aneuploidy. Single RBT carriers are the most common balanced rearrangement among the carrier couples with the history of spontaneous abortion. However, double Robertsonian translocations (DRBT), in which two balanced RBT occur simultaneously, are an extremely rare condition. A 9-year-old mentally normal girl with mu...
[ 5 ] - Study on KAL1 Gene Mutations in Idiopathic Hypogonadotropic Hypogonadism Patients with X-Linked Recessive Inheritance
Idiopathic hypogonadotropic hypogonadism (IHH) is a condition caused by low doses of hypothalamic gonadotropin-releasing hormone (GnRH) leading to absence or incomplete sexual maturation. One of the disorders leading to IHH is Kallmann syndrome which is characterized by GnRH deficiency with anosmia or hyposmia. This disorder generally occurs as a hereditary syndrome with X-linked recessive inhe...
[ 6 ] - Ring Chromosome 18: A Case Report
Ring chromosomes are rare chromosomal disorders that usually appear to occur de novo. A ring chromosome forms when due to deletion both ends of chromosome fuse with each other. Depending on the amount of chromosomal deletion, the clinical manifestations may be different. So, ring 18 syndrome is characterized by severe mental growth retardation as well as microcephaly, brain and ocular malformat...
[ 7 ] - Chromosomal Study of Couples with the History of Recurrent Spontaneous Abortions with Diagnosed Blightded Ovum
Spontaneous abortion (SAb) is the most common complication of early pregnancy. Numerous risk factors are associated with an increased risk of pregnancy loss such as: Blighted ovum. The aim of this study was to determine the frequency of balanced chromosomal translocations in couples with a history of recurrent spontaneous abortions and ultrasound diagnosed blighted ovum. Sixty Eight couples wit...
[ 8 ] - Polymorphism of Genes and Implantation Failure
Implantation failure is the most frequent cause of pregnancy loss in couples who try to conceive, either in a natural way or using assisted reproductive techniques (ART). Identify the precise mechanisms of implantation failure can lead to identify couples at risk and also providing appropriate therapeutic options to affected couples. Despite the high prevalence of this disorder, a few causing f...
[ 9 ] - Balanced Chromosomal Rearrangement in Recurrent Spontaneous Abortions: A Case Report
One of the major causes of spontaneous abortion before the fourth month of pregnancy is chromosomal abnormalities. We report an unusual case of a familial balanced chromosomal translocation in a consanguineous couple who experienced 4 spontaneous abortions. Chromosomal studies were performed on the basis of G-banding technique at high resolution and revealed 46, XX, t (16 6) (p12 q26) and 46, X...
[ 10 ] - The incidence of spontaneous abortion in mothers with blood group O compared with other blood types
Although ABO incompatibility between mother and fetus has long been suspected as cause of spontaneous abortion in man, its precise contribution has not been completely resolved. In spite of reports in which the incompatible mating was recognized to be a cause of habitual abortion, and which eventually results in infertility or a reduction in the number of living children compared with the numbe...
[ 11 ] - Cleft Palate induced by Sulfur Mustard in mice fetus
Sulfur Mustard (SM) is a chemical warfare agent which was widely used in the World War I and more recently during Gulf war in the early 1980s'. SM is a strong alkylating agent with known mutagenic and carcinogenic effects but only few studies have been published on its teratogenicity. Since SM has been widely used as a chemical weapon by the Iraqi regime against the Iranian soldiers as well as ...
[ 12 ] - Expression Analysis of Let-7a miRNA and its Target Gene NRAS in Cytogenetically Normal Family with Myelodysplastic Syndrome
Myelodysplastic syndrome (MDS), is a group of heterogeneous disorders of hematopoietic stem cell colonies which is determined by incomplete hematopoiesis in one or more cell lines. The incidence increases with age and it has less been reported among patients under 50 years of age. The commonest form of MDS is sporadic, and familial occurrence of MDS is rare. Patients with familial MDS are young...
[ 13 ] - The Frequency of Congenital Heart Disorders among Children Issued from Consanguineous Marriages in Khorasan Province, Northeast of Iran
Congenital heart disorders (CHDs) are an important health issue due to heavy costs and emotional effects they impose to families and society. In general, the prevalence of CHDs is approximately 8 in 1000 newborn, with a multifactorial origin. On the other hand, previous studies have shown that the prevalence of CHDs is high among the children of parents with consanguineous marriage. The aim of ...
[ 14 ] - Dermatoglyphic Assessment in Down and Klinefelter Syndromes
Background: Dermatoglyphics are the dermal ridge configurations on the digits, palms and soles. Dermatoglyphic polymorphism results from the co-operation of genetic and environmental factors. The Dermatoglyphic analysis is a valuable completion of initial diagnosis of some syndromes genetically determined. Our objective was to assess dermatoglyphics study results against standard chromosomal an...
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