Restriction fragment length polymorphisms identified with three locus-specific minisatellite probes and banding patterns with Y chromosome-specific probes have been examined in 39 cases of complete hydatidiform mole (CHM) and the parents. All 39 cases were shown to be androgenetic. Of the 39 cases, 8 were identified as heterozygous CHM using the minisatellite probes. Estimates for the total number of heterozygous CHM in the series ranged from 23%-29%, higher than previously reported. Of the eight identified heterozygous CHM, six had Y chromosome-specific sequences whereas two were female; this is not significantly different from the 2:1 ratio expected. The low frequency of 46,XX heterozygous CHM in the literature may reflect difficulties in distinguishing them from 46,XX homozygous CHM. Examination of RFLPs with a small panel of locus-specific minisatellite probes provides a powerful method of classifying hydatidiform mole, enabling the rare heterozygous 46,XX CHM to be accurately identified.

DNA Probes↗

PubMed1989

Members of the human glyceraldehyde-3-phosphate dehydrogenase-related gene family map to dispersed chromosomal locations.

Several highly homologous glyceraldehyde-3-phosphate dehydrogenase (GAPD)-related sequences have been identified previously in human DNA by Southern blot analysis. Protein studies have identified only a single expressed locus for this major glycolytic enzyme, and this maps to chromosome 12p13. Sequence analysis of a GAPD muscle cDNA clone and a GAPD-related clone retrieved from an X-chromosome recombinant library showed that the latter was a processed pseudogene that maps to Xp11-p21. In this study, we have determined the chromosomal locations of several of the additional GAPD-related human sequences using a short 3' end sequence from the cDNA to probe DNA from a series of human-rodent somatic cell hybrids on Southern blots. Eight HindIII GAPD-related sequences detected at high stringency have been mapped to 6 different chromosomes. Several of the additional sequences detected at more moderate stringency have been localized to a further 10 chromosomal sites. Together, these sites constitute the known expressed locus, the known X-linked pseudogene, and 15 GAPD-like loci.

Animals↗

PubMed1989

The gene for human muscle-specific phosphoglycerate mutase, PGAM2, mapped to chromosome 7 by polymerase chain reaction.

The gene for the human muscle-specific phosphoglycerate mutase, PGAM2, has been mapped to chromosome 7 using the polymerase chain reaction to specifically amplify the human PGAM2 sequence in rodent/human hybrid DNA. This assignment shows that the PGAM2 is not syntenic with the nonmuscle form of PGAM1 (B) which has been located to chromosome 10.

Animals↗

PubMed1989

The gene for human complement component C9 mapped to chromosome 5 by polymerase chain reaction.

The gene for human complement component C9 has been mapped to chromosome 5. This was achieved by using a novel application of the polymerase chain reaction to amplify specifically the human C9 gene on a background of rodent DNA in somatic cell hybrids. The assignment to chromosome 5 was confirmed by in situ hybridization to human metaphase chromosomes, giving a regional localization of 5p13.

Animals↗

PubMed1989

Widespread expression of human alpha 1-antitrypsin in transgenic mice revealed by in situ hybridization.

In situ hybridization is a powerful means of identifying sites of gene expression. We used this technique to examine the spatial and developmental control of transcription of the human alpha 1-antitrypsin (alpha 1 AT) gene in transgenic mice carrying this gene and extensive 5'- and 3'-flanking sequences. In addition to expression in yolk sac and liver, human alpha 1AT RNA was detected in gut, stomach, pancreas, nasal epithelium, pharynx, bronchi, spinal ganglia, and ossifying cartilage of transgenic fetuses at 14.5 days post coitum (dpc). In transgenic adults, expression was no longer found in the pancreas but was found in the kidney and salivary gland. In each tissue, expression was confined to a specific cell population. This pattern of alpha 1AT expression was found to correlate with that seen in several fetal and adult human tissues. These results suggest a wider role of alpha 1AT in human physiology and development than previously suspected, and they demonstrated the potential value of this approach in delineating the physiological role of human proteins. Expression of the endogenous alpha 1AT gene in mice was confined to a limited, but overlapping, set of tissues, suggesting that the cis-acting DNA sequences that regulate the expression of the human and mouse genes interact differently with transcription factors present in mouse cells.

Animals↗