Identification of cystic fibrosis homozygotes and heterozygotes by isoelectric focussing of serum proteins
β Scribed by K. A. Getliffe; L. C. Ward; R. W. Shepherd
- Publisher
- Springer
- Year
- 1986
- Tongue
- English
- Weight
- 684 KB
- Volume
- 9
- Category
- Article
- ISSN
- 0141-8955
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
A factor has been isolated from serum of homozygotes and obligate heterozgotes for cystic fibrosis using isoelectric focusing and disc electrophoresis as analytical methods. The factor is focused within an IgG-fraction with an isoelectric point of pH 8 to 9 but differs from IgG in its lower molecula
The high incidence of carriers of cystic fibrosis in the general population allows application of a less than perfect test to genetic counselling of relatives of children with the disorder and their spouses. In the absence of a definitive carrier detection test, we employ isoelectric focusing of ser
Here we describe the identification of an italian patient homozygote for the D579G mutation affected by a mild form of Cystic Fibrosis with pancreatic sufficiency, minor lung involvement and marked viscosity of the cervical mucous. The D579G mutation causes an A1868G transition, a substitution of an
## Abstract Strains of __Escherichia coli. Pseudomonas aeruginosa__ and __Proteus mirabilis__, isolated from clinical specimens were disrupted by repeated freezing in liquid nitrogen and thawing at room temperature. The samples were separated by isoelectric focusing using polyacrylamide gels. The r
A simple isoelectric focusing method for haptoglobin (HP) typing is described. Serum was pretreated first with C. perfringens neuraminidase (CPN) and then with dithiothreitol (DTT). The treated serum was subjected to polyacrylamide gel isoelectric focusing (PAGIF), and the band patterns were detecte