In the case of water soluble polymers, the use of size exclusion chromatography (SEC) for the determination of the molecular weight involves numerous difficulties. In order to analyse and determine the molecular weight of acrylic acid telomers we have first tried to obtain a satisfactory and reproducible separation. In this particular case, low-molecular-weight standards are not commercially available. Therefore, we decided to prepare standards based on acrylic acid, either by telomerization with a fluorinated telogen or by polymerization with an initiator bearing a fluorinated group. A calibration curve was obtained from the standards. Telomers of acrylic acid with thioglycolic acid were analysed. This is a general method for determination of DP n by SEC when there is no standard for the polymers. It can be used in a wide range of DP n from 1 to 700. 相似文献
Comparative genomic hybridization on a microarray (microarray-CGH) allows to detect genomic chromosome imbalances. In order to assess its value to detect small chromosome imbalances observed in a clinical setting, using a DNA chip available commercially (Spectral Genomics, Houston, Texas, USA), we studied the DNA of 9 patients carrying a well characterized chromosome imbalance and the DNA of 11 patients where cytogenetic techniques such as high resolution banding karyotype, FISH using subtelomeric probes and comparative genomic hybridization on metaphase chromosomes conclude to a normal and/or balanced karyotype. A result was obtained for 19/20 patients. Failure of hybridization was observed for one patient. For all the other cases the sex of patients was correctly identified. Microarray-CGH was able to correctly diagnose the chromosome imbalance in 6/8 patients carrying such a defect i.e 9/11 imbalances (deletion or duplication) were detected. No chromosome imbalance was observed in 11 patients considered normal and/or balanced using cytogenetic techniques. Several clones were found to be polymorphic and required FISH studies to eliminate duplication or deletion. In conclusion, we think that this commercially available DNA chip might be useful to screen for chromosome imbalances. However, technical improvements are still necessary before using it in a clinical setting. Also, further studies are necessary to assess its sensitivity and specificity. 相似文献
Summary: The telomerization of 10‐undecenol with alkyl hydrogenphosphonate was studied in order to synthesize telomers of different molecular weights. The study showed that telomers from 10‐undecenol could be obtained despite the fact that the double bond has a low reactivity. The kinetic constant Kp2/KTe was determined to be 7 × 10?4 l · mol?1 · s?1 at 135 °C and the transfer constant CT was 0.057. These values are normal for a low activity telogen such as hydrogenphosphonate and for slightly reactive monomers like 10‐undecenol.
SEC chromatogram of telomers obtained in the reaction of 10‐undecenol addition. 相似文献
Startle disease, or hyperekplexia, is characterized by an exaggeratedstartle reflex and neonatal hypertonla. An autosomal dominantform of the disorder Is associated with mutations In the samecodon of the 1 subunit of the inhibitory glycine receptor (GLRA1) resulting in the substitution of an uncharged amlno acidfor Arg271 in the mature protein. However, recessive transmissionIs seen in the mouse mutant spasmodic which resembles startledisease phenotypcially and is also associated with mutationsIn Glra 1. We have confirmed the finding of Arg271 mutationsIn individuals with startle disease in a UK family showing autosomaldominant transmission. In addition we describe an apparentlysporadic case, the offspring of a consanguineous mating, whoIs homozygous for a novel mutation (T1112A) in GLRA 1, whichresults In the substitution of asparagine for isoleucine atposition 244 of the mature protein. This suggests that humanstartle disease can display recessive as well as dominant inheritanceresulting from different mutations in GLRA 1. 相似文献
HER-2, a protooncogene located on chromosome 17q21, encodes a transmembrane glycoprotein (p185) with tyrosine kinase activity.
Alterations of the HER-2 gene have been implicated in the carcinogenesis and prognosis of breast cancer and other solid tumors. It is also a cancer-therapeutic
target for antibody-based therapy against the HER-2 protein. A single-nucleotide polymorphism (SNP) at codon 655, resulting in a G-to-A transition (Ile655Val) in the transmembrane
domain-coding region of this gene has been associated with an increased risk of breast cancer, particularly among younger
women. To understand the importance of this finding throughout the world, we evaluated this polymorphism in Ghanaian, Kenyan,
Sudanese, Caucasian, African–American, Saudi, and Filipino subjects using a polymerase chain reaction-restriction fragment
length polymorphism assay. The frequency of the Val allele, which is associated with increased breast cancer risk, was highly
variable between populations (0%–24%). Continental African populations had a lower frequency of the Val allele than did Saudi,
Chinese, Filipino, Caucasian, and African–American subjects. The data suggest that this SNP has variable frequency in different
ethnic groups. The findings in this study correspond with the lower incidence and lower risk of breast cancer in African women
compared with Caucasian and African–American women.
Received: December 13, 2001 / Accepted: January 16, 2002 相似文献
Genotype-phenotype correlation in women with an abnormal phenotype associated with a duplication of the long arm of the X chromosome remains unclear. We report on prenatal diagnosis and follow-up of a girl with an Xq duplication and dysmorphic features. The abnormal phenotype included growth retardation, hypotonia, and nystagmus. In order to improve the resolution of the cytogenetic analysis, we used both conventional and array-based comparative genomic hybridization to perform a global molecular cytogenetic analysis of the genome. These molecular cytogenetic analyses showed a direct duplication Xq21.1 --> q25 without other chromosomal abnormalities. This duplication was originating from the paternal X chromosome. Moreover, a skewed X-inactivation pattern was observed leading to a partial functional disomy of the chromosomal region Xq21.1q25. This report and review of the literature suggest that functional disomy for chromosome X could explain the abnormal phenotype. In prenatal diagnosis, this can have implication for patient management and genetic counseling. 相似文献
The OPA1 gene, encoding a dynamin-related GTPase that plays a role in mitochondrial biogenesis, is implicated in most cases of autosomal dominant optic atrophy (ADOA). Sixty-nine pathogenic OPA1 mutations have been reported so far. Most of these are truncating mutations located in the GTPase domain coding region (exons 8-16) and at the 3'-end (exons 27-28). We screened 44 patients with typical ADOA using PCR-sequencing. We also tested 20 sporadic cases of bilateral optic atrophy compatible with ADOA. Of the 18 OPA1 mutations found, 14 have never been previously reported. The novel mutations include one nonsense mutation, 3 missense mutations, 6 deletions, one insertion and 3 exon-skipping mutations. Two of these are de novo mutations, which were found in 2 patients with sporadic optic atrophy. The recurrent c.2708_2711delTTAG mutation was found in 2 patients with a severe congenital presentation of the disease. These results suggest that screening for OPA1 gene mutations may be useful for patients with optic atrophy who have no affected relatives, or when the presentation of the disease is atypical as in the case of early onset optic atrophy. 相似文献
Pulmonary hypertension (PH) produces strain followed by hypertrophy and later dilatation of the right ventricle (RV) and pulmonary artery. The signs and symptoms are nonspecific. There is a need for a noninvasive sensitive way to diagnose PH. The purpose of this study is to evaluate phase abnormalities in radionuclide MUGA studies of patients with referred diagnosis of PH. In a retrospective analysis of 44 patients who had a radionuclide multigated study (MUGA) and contrast ventriculography (CV), 19 had high mean pulmonary pressure (over 20 mmHg) and a high pulmonary vascular resistance index (over 2.0). In 15 patients, a delayed phase segment in the RV corresponding to the pulmonary infundibulum and pulmonary conus was noted The Pulmonary Tongue sign (PT), 12 had PH (True positive) and 3 did not (false positive) on CV. No PT was seen in the remaining 29 patients, only 7 of them had PH (False negative). The sensitivity, specificity and accuracy of the PT sign in detecting PH was 80%, 72% and 77% respectively. The number of patients was too small to calculate the correlation of the grade of PT with the severity of PH. We conclude that The Pulmonary Tongue sign on a MUGA study is clinically useful in detecting PH.This project is supported by research project MLNO13 and funded by research Council, Kuwait University 相似文献