بررسی اختلالات کروموزومی و ساب تلومریک در ۴۰ کودک عقب مانده ذهنی یا دچار تاخیر تکامل با علت نامشخص با استفاده از روشهای سیوژنتیک و تکثیر پروبهای چندگانه وابسته به اتصال MLPA))
نام عام مواد
[پایاننامه]
عنوان اصلي به زبان ديگر
(MLPA) methods پMultiplex Ligation-dependent Probe Amplificationب Investigation of subtelomeric chromosomal aberrations in40 children with idiopathic mental retardation (MR) ordevelopmental delay ,using cytogenetics and
وضعیت نشر و پخش و غیره
نام ناشر، پخش کننده و غيره
علوم بهزیستی و توانبخشی university of social welfare and rehabilitation))
تاریخ نشرو بخش و غیره
، ۱۳۹۰
مشخصات ظاهری
نام خاص و کميت اثر
۸۹ص.
یادداشتهای مربوط به نشر، بخش و غیره
متن يادداشت
چاپی
یادداشتهای مربوط به پایان نامه ها
جزئيات پايان نامه و نوع درجه آن
کارشناسی ارشد
نظم درجات
ژنتیک genetic
کسي که مدرک را اعطا کرده
علوم بهزیستی و توانبخشی university of social welfare and rehabilitation))
یادداشتهای مربوط به خلاصه یا چکیده
متن يادداشت
Mental Retardation (MR) has heterogeneous etiology mostly with genetic causes. Chromosomal aberrations are one of the most common causes of MR and are responsible for 4-28 of all the mental retardation. Using Classic cytogenetics, chromosome abnormalities up to 4 Mbp can be detected. However for smaller abnormalities, molecular cytogenetics techniques such as fluorescent in situ hybridization (FISH) can be used.It has been shown that 5-7 of idiopathic MR have subtelomeric rearrangements using subtelomeric FISH technique. The subtelomere regions of chromosomes are gene rich and their abnormalities can be the main cause of idiopathic MR and multiple congenital abnormalities. Multiplex Ligationdependent Probe Amplification (MLPA) method detects genomic imbalances(deletions and duplications). It has a high sensitivity for the detection of subtelomeric imbalances, is rapid and much cheaper than FISH and hence applicable for a diagnostic set up.Various reports using MLPA for subtelomeric screening have reported 4-12 abnormalities among the idiopathic MR patients. In this project, using MLPA technique, the subtelomeric abnormalities were investigated in 40 patients with idiopathic MR with or without dysmorphism, with non consanguineous parents if more than one patient was affected. All the patients had normal karyotypes and were negative for fragile-X. The patients were screened with two MLPA kits, P036 and P070. The abnormal two patients (5 ), using both kits, had abnormal results, one with deletion of subtelomeric region of short arm of chromosome 3 and the other with deletion of centromeric region of long arm of chromosome 15. In order to determine the pathogenic and heritable status of the subtelomeric abnormalities , subtelomeic MLPA, carried out on the parents. For patient 30240 , both parents ,had normal results . For the other patient (29660) , father had normal results , but the patient's mother had the same abnormality as the patient ,while the mother was healthy. Therefore this abnormality may be polymorphic . Further family studies , and prenatal diagnosis will be recommended to the parents ,if the anomaly is found to be inherited .Genetic Counseling will be recommended to the affected families. Itis , however , necessary to carry out subtelomeric MLPA on more patients in order to give an accurate frequency for subtelomeric abnormalities in the Iranian population .Key Words: Idiopathic mental retardation, MLPA, normal karyotype , Subtelomeric abnormalities.
خط فهرستنویسی و خط اصلی شناسه
ba
عنوان اصلی به زبان دیگر
عنوان اصلي به زبان ديگر
(MLPA) methods پMultiplex Ligation-dependent Probe Amplificationب Investigation of subtelomeric chromosomal aberrations in40 children with idiopathic mental retardation (MR) ordevelopmental delay ,using cytogenetics and
نام شخص به منزله سر شناسه - (مسئولیت معنوی درجه اول )