| Autor: |
Wassif, Wassif S., Farnebo, Filip, Tean Teh, Bin, Moniz, Caje F., Li, Fang-Yuan, Harrison, John D., Peters, Timothy J., Larsson, Catharina, Harris, Philip |
| Předmět: |
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| Zdroj: |
Clinical Endocrinology; Feb1999, Vol. 50 Issue 2, p191-196, 6p |
| Abstrakt: |
BACKGROUND AND OBJECTIVESFamilial hyperparathyroidism may occur as familial isolated hyperparathyroidism (FIHP) or as part of an inherited syndrome, in particular multiple endocrine neoplasia types 1 and 2 A (MEN1, MEN2A) and hyperparathyroidism–jaw tumour (HPT–JT) syndrome. The localization of the genes responsible for these syndromes has enabled genetic screening of families with primary hyperparathyroidism (PHPT) to be carried out. This has important clinical implications in terms of individual follow-up and management. We previously reported a large FIHP family with an increased risk of parathyroid cancer and excluded its linkage to MEN1, MEN2 and PTH genes. Here we re-analysed this family and performed genetic linkage to the HPT–JT locus in chromosome 1q21-q32. Loss of heterozygosity studies of 1q21-q32, 11q13 and X chromosome were also performed. PATIENTS AND DESIGNWe studied 19 family members, aged 6–63 years. High molecular weight DNA was isolated from peripheral blood samples from 17 family members. For the two deceased individuals, DNA was extracted from normal paraffin embedded tissues. MEASUREMENTSAll individuals (except two deceased patients) had serum corrected calcium, inorganic phosphate, intact PTH, prolactin and various pancreatic hormones, measured on fasting blood samples. Twenty microsatellite markers were examined for the 1q21-q32 region, the locus for the HPT–JT gene. Genetic polymorphisms were determined by polymerase chain reaction amplification of genomic DNA and genetic linkage analysis was performed. Loss of heterozygosity studies were performed using paraffin-embedded parathyroid tissues from four affected members. RESULTSSeven of the eight affected family members included in this study had biochemical evidence of PHPT and surgically proven parathyroid tumours. Indication of linkage of the disease to the HPT–JT locus was demonstrated with a maximum lod score of 2.32 by two-points linkage... [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
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