Mixed hematopoietic chimerism after allogeneic transplantation with lymphocyte-depleted bone marrow is not associated with a higher incidence of relapse.

Using red cell phenotyping, cytogenetic analysis of blood lymphocytes, chromosome studies of bone marrow cells, and restriction fragment length polymorphism (RFLP) studies of peripheral blood cells, we demonstrated a high number of mixed chimeras after allogeneic bone marrow transplantation (BMT). Donor marrow from HLA-A, -B, and -DR identical, mixed lymphocyte culture (MLC) nonreactive siblings was depleted of 98% of lymphocytes using counterflow centrifugation. Thirty-two of 48 recipients (67%) appeared to be mixed chimeras at 6 months after transplantation.

Characterization of a human ovarian carcinoma cell line, OTN 14, derived from a mucinous cystadenocarcinoma.

A human ovarian carcinoma cell line, OTN 14, has been established from malignant ascitic fluid of a patient with a well-differentiated mucinous cystadenocarcinoma of the left ovary. The cell line has been maintained in vitro for 6 months through 23 passages, growing in monolayers as well as in 3-dimensional clusters, with a population doubling time of 28 1/2 hr. The number of chromosomes per cell varied from 67 to 88, with a modal number of 86.

Three-point linkage analysis employing C3 and 19cen markers assigns the myotonic dystrophy gene to 19q.

In seven large families with myotonic dystrophy (DM) comprising 102 individuals, linkage studies were performed employing restriction fragment length polymorphisms in the complement component 3 gene and the 19cen C banding heteromorphism as genetic markers. Three-point linkage analysis excludes DM from the 19cen-C3 segment and strongly supports its assignment to the proximal long arm of chromosome 19.

The most common fragile site in man is 3p14.

In man a common fragile site is known to occur at 3p14. We studied the expression of this fragility in a group of 70 normal healthy subjects. Chromosome breaks, chromatid breaks and gaps at 3p14 could be observed in every examined individual, and in a total of 7000 metaphases they were seen in a mean of 4% of cells.

Toward early diagnosis of myotonic dystrophy: construction and characterization of a somatic cell hybrid with a single human der(19) chromosome.

We have constructed a somatic cell hybrid line, designated 908K1, with a single human der(19) chromosome on a Chinese hamster background by employing conventional as well as microcell-mediated cell fusion techniques. The der(19) chromosome comprises the 19p13.1----q13.

Submicroscopic interstitial deletion of the X chromosome explains a complex genetic syndrome dominated by Norrie disease.

Norrie disease (ND), an X-linked recessive disorder, is characterized by congenital blindness followed by bulbar atrophy. We have examined a three-generation family in which ND is part of a complex X-linked syndrome with severe mental retardation, hypogonadism, growth disturbances, and increased susceptibility to infections as additional features. This syndrome is apparently due to an interstitial deletion, as evidenced by the failure of the L1.

Heritable fragility at 11q13 and 12q13.

The chromosomes of two mentally retarded probands were investigated because they were suspected of having the fragile X syndrome. However two other fragilities were detected. In one patient a fra(11)(q13) was found and in the other a fra(12)(q13).