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Clinical and Molecular Aspects of Sjogren-Larsson Syndrome Reported in an Iranian Consanguineous Family with Triplet Affected Individuals
Sjogren-Larsson Skin disease Mutation Iran
2015/9/25
Background: Sjogren Larsson Syndrome (SLS; OMIM: 270200) is an autosomal recessive neuro-cutaneous disorder characterized by mental retardation, congenital ichthyosis and spastic paraplegia. SLS is ca...
Preliminary Report: EVIDENCE OF AUTOSOMAL RECESSIVE FORM OF ALPORT SYNDROME IN IRAN
Alport syndrorme Hereditary nephritis IRAN
2009/12/30
Alport syndrome is a progressive hereditary nephritis leading to renal failure. Nearly all of the documents declare that Alport syndrome is inherited as X-linked dominant trait and reports of autosoma...
Chromosome 2 fragility- 48,XXYY syndrome
case report chromosome fragility severe mental retardation 48 XXYY
2009/7/1
We report a case of double male syndrome, a type of Klinefelter syndrome with 48, XXYY chromosome. The case had been referred to our department because of severe mental retardation and behavioural and...
"Trichorhinophalangeal Syndrome Type I":A Turkish Case
Cone-shaped epiphysis dysplasia trichorhinophalangeal syndrome type I
2009/6/24
Trichorhinophalangeal syndrome type I (TRPS I) is a rare complex genetic disorder characterized by sparse, slow growing hair, a bulbous pear-shaped nose, clinobrachydactyly and radiographically cone-s...
Seckel Syndrome with Spontaneous Chromosomal Instability
Seckel syndrome chromosomal instability chromosomal breakage syndrome
2009/6/16
Seckel syndrome is an autosomal recessive disorder characterized by prenatal and postnatal growth retardation, bird-headed face and mild mental retardation. It is a disorder involving the DNA damage-r...
应用PCR技术对先天性长QT综合征KCNQ1基因进行定点突变的研究PCR Site-Directed Mutagenesis of Long QT Syndrome KCNQ1 Gene in vitro
长QT综合征 KCNQ1 PCR 定点突变
2008/1/20
摘要
利用聚合酶链反应（PCR）技术对长QT综合征（LQTS）KCNQ1基因进行定点突变的研究。首先设计两对引物（包含预定的突变），通过3轮PCR扩增，扩增出含有所需突变位点的片段，然后将片段克隆入T载体中，通过酶切连接的方法将突变点引入到pIRES2-EGFP-KCNQ1中，随后用Effectene转染试剂介导转染HEK293细胞。结果在真核表达载体pIRES2-EGFP-KCNQ1基础上获得...