Mapping the gene for hereditary hyperparathyroidism and prolactinoma (MEN1Burin) to chromosome 11q: evidence for a founder effect in patients from Newfoundland.
An autosomal dominant syndrome of prolactinomas, carcinoids, and hyperparathyroidism was described in four Newfoundland kindreds in 1980 and in one kindred from the Pacific Northwest in 1983. Because this syndrome shares many features with multiple endocrine neoplasia type 1, the gene for which maps to proximal chromosome 11q, we performed linkage studies with chromosome 11 markers in prolactinoma families to determine whether the two genes map to the same location. All proximal chromosome 11q markers gave positive LOD scores, and no recombinants were seen with PYGM (LOD score 15.25, recombination fraction .0). All affected individuals from Newfoundland shared the same PYGM allele, providing evidence for a founder effect. The disease in the Pacific Northwest kindred cosegregated with a different PYGM allele.
Petty
E M
EM
Department of Genetics, Yale University School of Medicine, New Haven, CT 06510.
Green
J S
JS
Marx
S J
SJ
Taggart
R T
RT
Farid
N
N
Bale
A E
AE
D001483:Base Sequence; D002276:Carcinoid Tumor / Q000208:ethnology / Q000235:genetics; D002648:Child; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11; D005260:Female; D008040:Genetic Linkage / Q000235:genetics; D005819:Genetic Markers; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D006961:Hyperparathyroidism / Q000208:ethnology / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009377:Multiple Endocrine Neoplasia / Q000208:ethnology / Q000235:genetics*; D009523:Newfoundland and Labrador / Q000453:epidemiology; D015205:Northwestern United States / Q000453:epidemiology; D010290:Parents; D010375:Pedigree; D010911:Pituitary Neoplasms / Q000208:ethnology / Q000235:genetics*; D015175:Prolactinoma / Q000208:ethnology / Q000235:genetics*; D013577:Syndrome
D005819:Genetic Markers