PMID- 7635467
OWN - NLM
STAT- MEDLINE
DCOM- 19950911
LR  - 20190722
IS  - 0340-6717 (Print)
IS  - 0340-6717 (Linking)
VI  - 96
IP  - 2
DP  - 1995 Aug
TI  - Linkage studies in a kindred from Oklahoma, with familial benign (hypocalciuric) 
      hypercalcaemia (FBH) and developmental elevations in serum parathyroid hormone 
      levels, indicate a third locus for FBH.
PG  - 183-7
AB  - A five-generation kindred (19 affected, two obligate carriers and 20 unaffected) 
      from Oklahoma USA, in which familial benign (hypocalciuric) hypercalcaemia (FBH) 
      was associated with a developmental elevation in serum parathyroid hormone (PTH) 
      levels, has been investigated for linkage to the candidate chromosomal regions 
      3q21-q24 and 19p13.3, 11q13, and 11p15, to which the genes for FBH, multiple 
      endocrine neoplasia type 1 (MEN1) and PTH have been mapped respectively. By means 
      of 17 polymorphic markers from these regions, linkage was excluded [LOD scores < 
      -2.00 at (theta) = 0.05-0.25]. In addition, an analysis of multipoint crossovers 
      and use of the LINKMAP program confirmed the exclusion from these regions. Thus, 
      this form of FBH, designated the Oklahoma variant FBH(Ok), is not linked to 
      markers that segregate with FBH, MEN1 and PTH; our results indicate further 
      genetic heterogeneity and the presence of a third locus for FBH.
FAU - Trump, D
AU  - Trump D
AD  - MRC Molecular Endocrinology Group, Royal Postgraduate Medical School, Hammersmith 
      Hospital, London, UK.
FAU - Whyte, M P
AU  - Whyte MP
FAU - Wooding, C
AU  - Wooding C
FAU - Pang, J T
AU  - Pang JT
FAU - Pearce, S H
AU  - Pearce SH
FAU - Kocher, D B
AU  - Kocher DB
FAU - Thakker, R V
AU  - Thakker RV
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Germany
TA  - Hum Genet
JT  - Human genetics
JID - 7613873
RN  - 0 (Genetic Markers)
RN  - 0 (Parathyroid Hormone)
SB  - IM
MH  - Chromosome Mapping
MH  - Chromosomes, Human, Pair 11/genetics
MH  - Chromosomes, Human, Pair 19/genetics
MH  - Chromosomes, Human, Pair 3/genetics
MH  - Crossing Over, Genetic
MH  - Female
MH  - Genetic Markers
MH  - Humans
MH  - Hypercalcemia/epidemiology/*genetics
MH  - *Lod Score
MH  - Male
MH  - Oklahoma/epidemiology
MH  - Parathyroid Hormone/*blood
MH  - Pedigree
EDAT- 1995/08/01 00:00
MHDA- 1995/08/01 00:01
CRDT- 1995/08/01 00:00
PHST- 1995/08/01 00:00 [pubmed]
PHST- 1995/08/01 00:01 [medline]
PHST- 1995/08/01 00:00 [entrez]
AID - 10.1007/BF00207376 [doi]
PST - ppublish
SO  - Hum Genet. 1995 Aug;96(2):183-7. doi: 10.1007/BF00207376.