Familial multinodular goiter syndrome with papillary thyroid carcinomas: mutational analysis of the associated genes in 5 cases from 1 Chinese family

Liao, Shunyao; Song, Wenzhong; Liu, Yunqiang; Deng, Shaoping; Liang, Yaming; Tang, Zhenlin; Huang, Jiyuan; Dong, Dandan; Xu, Gang

doi:10.1186/1472-6823-13-48

Table 3 Sequences of susceptibility loci in the family members

From: Familial multinodular goiter syndrome with papillary thyroid carcinomas: mutational analysis of the associated genes in 5 cases from 1 Chinese family

Chromosome	BRAF at Chr7q34		RET at Chr10q11.2: 43,572,517-43,625,799
	rs121913364	rs113488022	rs35800403	rs2742243	rs77702891	rs80236571	rs75873440	rs77558292	rs77939446	rs80069458
Locus	140,453,134 exon15	140,453,136 exon15	43,601,415 intron	43,601,749 intron	43,601,894 exon5	43,601,945 exon5	43,607,621 exon8&9	43,609,069 exon10	43,609,070 exon10	43,609,077 exon10
Allele	A:germline G:germline somatic A → G missense	A:germline; somatic C:somatic T:germline T → A missense	G/C	T/C	A:germline G:germline G → A missense	A:germline G:germline G → A missense	G:germline T:germline G → T missense	T:germline C:germline T → C missense	G:germline A:germline G → A missense	C:germline G:germline C → G missense
II1 normal	TT	AA	GC	TC	GG	GG	GG	TT	GG	CC
II2 MNG	TT	AA	GG	TT	GG	GG	GG	TT	GG	CC
III2 PTC	TT	AA	GC	TC	GG	GG	GG	TT	GG	CC
II5 PTC	TT	AA	GG	TT	GG	GG	GG	TT	GG	CC
II8 MNG	TT	AA	GC	TC	GG	GG	GG	TT	GG	CC
II10 MNG	TT	AA	GG	TT	GG	GG	GG	TT	GG	CC
Chromosome	RET at Chr10q11.2: 43,572,517-43,625,799
	rs76262710	rs79781594	rs77316810	rs77503355	rs79890926	rs121913313	rs2256550	rs75075748	rs78014899	rs75686697	rs75030001
Locus	43,609,096 exon10	43,609,097 exon10	43,609,102 exon10	43,609,103 exon10	43,609,104 exon10	43,609,104 exon10	43,611,865 exon12	43,613,829 exon13	43,613,840 exon13	43,613,868 exon13	43,613,906 exon13
Allele	C:germline G:germline T:germline T → C&T → G missense	C:germline G:germline G → C missense	C:germline T:germline T → C missense	A:germline C:germline G:germline T:germline G → A& G → C& G → T missense	C:germline G:germline C → G missense	not availiable cds-indel	T/C intron	C:germline T:germline T → C missense	A:unkown C:somatic G:germline G → A& G → C cds-synon	A:germline G:germline G → A missense	C:unkown G:germline G → C missense
II1 normal	TT	GG	TT	GG	CC	no del	TC	TT	GG	GG	GG
II2 MNG	TT	GG	TT	GG	CC	no del	TT	TT	GG	GG	GG
III2 PTC	TT	GG	TT	GG	CC	no del	TC	TT	GG	GG	GG
II5 PTC	TT	GG	TT	GG	CC	no del	TT	TT	GG	GG	GG
II8 MNG	TT	GG	TT	GG	CC	no del	TC	TT	GG	GG	GG
II10 MNG	TT	GG	TT	GG	CC	no del	TT	TT	GG	GG	GG
Chromosome	RET at Chr10q11.2: 43,572,517-43,625,799
	rs77724903	rs79658334	rs11238441	new	rs2472737	rs121913306	rs75234356	rs76087194	rs121913309	rs1800863	rs78347871
Locus	43,613,908 exon13	43,614,996 exon14	43,615,382 intron	43,615,404 intron	43,615,505 intron	43,615,567 exon15	43,615,592 exon15	43,615,611 exon15	43,615,613 exon15	43,615,633 exon15	43,617,398 exon16
Allele	A:germline T:germline A → T missense	A:unkown G:germline T:germline G → A &G → T missense	C/T	C/T	G/A	AGC:germline TTT:somatic cds-indel	G:germline T:germline T → G missense	A:germline G:germline G → A missense	not availiable cds-indel	not availiable C/G cds-synon	C:germline G:germline G → C missense
II1 normal	AA	GG	CC	CC	GA	AGC	TT	GG	no del	CC	GG
II2 MNG	AA	GG	CT	CC	GG	AGC	TT	GG	no del	CG	GG
III2 PTC	AA	GG	CC	CC	GA	AGC	TT	GG	no del	CC	GG
II5 PTC	AA	GG	CT	CC	GG	AGC	TT	GG	no del	CG	GG
II8 MNG	AA	GG	CC	CT	GA	AGC	TT	GG	no del	CC	GG
II10 MNG	AA	GG	CT	CT	GG	AGC	TT	GG	no del	CG	GG

The SNP alleles are shown as the reference/variant, referring to NCBI Build 36.3; the common to mutant is showed by “→”; the risk allele is indicated with an asterisk and outlined if presented in the family members, and the different sequences among the family members are shadowed.

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ISSN: 1472-6823

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