A Copy Number Variant on Chromosome 20q13.3 Implicated in Thinness and Severe Obesity

Table 4

Copy number of SLC2A4RG on chromosome 20 measured by qPCR on selected members of one thin and one obese pedigree. Replicate qPCR measurements on four individuals fell within 3% of the original measurement and qPCR on a local pooled female sample exhibited 2 copies.

Pedigree type	Relationship^1	Gender	Age	BMI	LRR	Copy number by qPCR^2
Obese	Index	F	38	41.9	−0.5277	1
Obese	Sibling	F	36	38.8	−0.6893	1
Obese	Sibling	F	38	28.0	0.0000	2
Obese	Mother	F	56	48.5	0.2475	2
Obese	Grandfather	M	88	27.8	−0.0659	2
Obese	Aunt	M	53	37.1	−0.1190	2
Obese	Aunt	F	48	61.0	0.3003	2
Obese	Aunt	F	43	43.1	−0.4856	1
Obese	Cousin	F	22	43.3	0.0279	2
Thin	Index	F	37	19.7	0.3285	3
Thin	Sibling	F	34	20.9	0.3230	3
Thin	Mother	F	65	30.6	NA	2
Thin	Uncle	M	59	20.0	0.2821	2
Thin	Cousin	F	31	18.1	−0.2417	2
Thin	Uncle	M	61	20.8	0.4393	2
Thin	Cousin	F	36	17.3	0.0810	2
Thin	Cousin	F	NA	NA	NA	3

Relationship to the index case in each pedigree through her mother.
Promega female sample as standard.