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K Fagan

Publications and source records attributed to K Fagan.

26 records · Page 2Linked to original sources
PubMed1990

Localization of the human UbB polyubiquitin gene to chromosome band 17p11.1-17p12.

The chromosomal location of the human ubiquitin genes has been evaluated by in situ hybridization. Because of the conservation of the ubiquitin sequence, coding-region probes cannot distinguish between specific ubiquitin genes and reveal ubiquitin sequences in a number of different chromosomal regions. The major sites of hybridization with a coding-region probe include 17p11.1-p12, 12p24.2-q24.32, and 2q21-q24, with weaker hybridization over 1p3, 1q4, 2q3, and 13q. Hybridization with a probe isolated from the UbB gene intron indicated that this gene is located within the region 17p11.1-17p12. This region showed the strongest hybridization with the coding-region probe and is presumably also the location of the duplicated UbB pseudogene.

Blotting, Southern↗
PubMed1990

Termination of health benefits for Pittston mine workers: impact on the health and security of miners and their families.

Mine workers represented by the United Mine Workers of America (UMWA) have had comprehensive medical care coverage since 1950. On February 1, 1988, UMWA employees of the Pittston Coal Group had their health care benefits abruptly terminated. Renewal of these benefits became a major reason for the subsequent UMWA strike against Pittston. In December, 1989, physician interviewers were organized to document the human experience of this termination of health care benefits. This report summarizes these interviews, and concludes that the UMWA experience in the Pittston coal fields is one example of the barriers to health care experienced by an increasing proportion of the United States population.

Adolescent↗
PubMed1989

A summary of 7q interstitial deletions and exclusion mapping of the gene for beta-glucuronidase.

Three patients are described with different phenotypes and differing de novo interstitial deletions of the long arm of a chromosome 7. The first patient has a deletion with loss of the proximal 7q11.23 band. Only three other cases have been reported with this particular deletion. Our second case shows mild dysmorphism similar to the other four patients reported with deletion of bands 7q21.12----21.3. Our third patient has a deletion of the 7q22.1----32.2 segment and has many of the phenotypic features of the other reported cases of del 7q22----32. GUSB, the gene for beta-glucuronidase, has been localised to the 7cen----q22 region. Analysis of beta-glucuronidase levels in blood leucocytes of our patients has helped more precisely to assign this gene locus to 7q21.11 or 7q22.1.

Abnormalities, Multiple↗
PubMed1989

A new interstitial deletion of 4q (q21.1::q22.1).

A unique case of de novo interstitial deletion of chromosome 4 is described involving loss of band q21. The male newborn had multiple abnormalities including frontal bossing, prominent occiput, low set ears, micrognathia, short sternum, short, broad hands and feet, agenesis of the corpus callosum, and cardiac defects. The phenotypic abnormalities are compared with other reported cases of deletion 4q involving adjacent regions.

Abnormalities, Multiple↗
PubMed1988

Ring chromosome 11 and café-au-lait spots.

We report on the segregation of a cytogenetically non-deleted ring chromosome 11 and café-au-lait spots in a family. This appears to be the largest inherited ring autosome yet reported.

Adolescent↗
PubMed1988

The coagulation factor VII regulator is located on 8p23.1.

Cytogenetic and coagulation studies have been performed on two patients with different abnormalities of chromosome 8, i.e. del(8p23.1----pter) and dup(8q23.1----qter). Results confirm the existence of a regulatory mechanism for clotting factor VII on chromosome 8 and define its location to the p23.1----p23.2 region.

Blood Coagulation↗
PubMed1983

A deletion of heterochromatin only of the Y chromosome in an azoospermic male.

A patient with a deletion of the distal portion of the long arm (q21) of chromosome Y is described clinically and cytogenetically. The proband has a normal male habitus but with azoospermia. The proband was investigated because of infertility. Male relatives were also investigated cytogenetically. The deleted Y chromosome was measured and compared with the normal Y of male family members. The results suggest that no Y euchromatin was lost.

Adult↗