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Mutation scanning for BRCA1, BRCA2, hMLH1 and MSH2

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RQ-PCR analysis of the BCR-ABL fusion transcript

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BRCA2 Controls

Reference reagents - BRCA2 Controls

	Pool 1: Wild type only
	Pool 2: Heterozygous mutation controls
	Pool 3: polymorphism controls
All plasmid pools have same cloned fragments

Exon	Cloned fragment	Nucleotide Change	Amino Acid Change	Polymorphism
2	IVS1-192 to IVS2+207	32 T>C	F11S	1-26 G>A
3	IVS2-211 to IVS3+228	201 G>A	R67R	NONE
4	IVS3-151 to IVS4+192	366 T>A	T122T	425+67 A>C
5	IVS4-210 to IVS5+213	444 T>A	C148X	426-89 T>C
7	IVS6-205 to IVS7+186	555 A>T	G185G	NONE
8	IVS7-172 to IVS8+238	640 G>A	E214K	681+56 C>T
9	IVS8-228 to IVS9+173	723 G>A	K241K	NONE
10	IVS9-148 to IVS10+143	906C>G 1227G>A 1533A>T 1833A>G	T302T E409E S511S S611S	865 A>C 1114 A>C 1796 C>T
11	IVS10-99 to IVS11+147	2079 T>A 2214 T>A 2651 C>G 2878 A>T 3587 T>A 3958 G>T 4365 A>G 4768 A>T 5263 G>T 5727 T>A 6441 C>T 6836 T>A	C693X C738X S884X K960X L1196X E1320X E1455E K1590X E1755X D1909E H2147H L2279X	2229 T>C 2971 A>G 3396 A>G 3807 T>C 4563 G>A 5744 C>T 6516 G>C
12	IVS11-248 to IVS12+213	6856 A>T	K2286X	NONE
13	IVS12-397 to IVS13+280	6980 T>G	L2327X	NONE
14	IVS13 -211 to IVS14 +16	7044 T>A 7253 G>C	N2348K R2418T	7008-62 A>G 7242 A>G
15	IVS14-75 to IVS15+172	7540 A>T	K2514X	7469 T>C
16	IVS15-270 to IVS16+276	7681 C>T	Q2561X	NONE
17	IVS16-228 to IVS17+228	7887 G>A	W2629X	7806-14 C>T
18	IVS17-235 to IVS18+217	8032 A>G 8308 G>C	R2678G A2770P	NONE NONE
19	IVS18-235 to IVS19+265	8408 T>C	L2803P	8487+47 C>T
20	IVS19-216 to IVS20+209	8581 A>T	R2861X	8503 T>C
21	IVS20-195 to IVS21+151	8681 A>G	Q2894R	NONE
22	IVS21-154 to 9211	8854 A>G	M2952V	8830 A>T
23	IVS22-231 to IVS23+253	9041 C>A	S3014X	NONE
24	IVS22-28 to IVS24+205	9203 C>T	S3068F	NONE
25	IVS24-211 to IVS25+280	9261 T>C	L3087L	NONE
26	IVS25-215 to IVS26+187	9599 C>G	S3200X	NONE
27	IVS26-230 to 10792	9740 A>C 10030 C>G	Q3247P L3344V	9976 A>T 10234 A>G

Last Updated: 30 July, 2008 by G. Watkins

© 2006 National Genetics Reference Laboratory (Wessex), Salisbury District Hospital, Salisbury SP2 8BJ; Tel: +44 (0)1722 429080; E-mail:ncpc@soton.ac.uk