Prenatal diagnosis of alpha 1-antitrypsin (AAT) deficiency can be performed in the 1st trimester
of pregnancy. These diagnoses have been based on DNA technology using either RFLP …

frequency (Pi ZZ and Pi SZ) of more than 1/looo in northern Europe. By amplifying the DNA
segment (1), that containsthe Z mutation, we have developed a sensitive, reliable and rapid …

Alpha 1-antitrypsin (AAT) deficiency is a serious predisposing factor for the development of
pulmonary emphysema. Twelve representative Danish families were studied. AAT typing was …

Disease associated balanced chromosomal rearrangements (DBCRs), which truncate,
delete, or otherwise inactivate specific genes, have been instrumental for positional cloning of …

Biotinylated DNA hybridization probes offers a stable, cheap and non-radioactive alternative
to probes labelled with 32 P. Insufficient sensitivity has, however, up till now, been …

Malignancies of the nasal cavity and paranasal sinuses are well known, but have uncommon
presentations. Late diagnosis and local extension are significant prognostic factors …

Specific analysis for point mutations in genomic DNA has until recently been a difficult and
time-consuming task, using large amounts of unstable, hazardous and expensive 32 P. By …

In a search for potential infertility loci, which might be revealed by clustering of chromosomal
breakpoints, we compiled 464 infertile males with a balanced rearrangement from …

In a family with a large pericentric inversion in one chromosome No. 6 (Inv(6)(p+q–)), HL-A
was shown to have segregated with this chromosome in seven of seven cases. This raises …

Human papillomaviruses (HPV) may cause sexually transmitted disease. High-risk types of
HPV are involved in the development of cervical cell dysplasia, whereas low-risk types may …