Part 3: Association Study

 

 

Luckily in your lab, you had DNA from single cases of AD as well as some controls.  You will use these to test genes in this region to see if you can find an AD associated gene.

Like any scientist, you must do some research before continuing your analysis.  This will help you to choose appropriate candidate genes that are implicated in the pathogenic pathway of the disease.   Look at the table below containing genes in your suspect region on chromosome 6q.  Click on the OMIM number to open a new window to find out more information on each gene.  Try to find one that may be associated with AD.

Genes between markers D6S1007 and D6S264

Gene

Gene name

OMIM #

Location

SNX9

SORTING NEXIN 9

*605952

Chr.6

TCTEL1

T-COMPLEX-ASSOCIATED TESTIS EXPRESSED 1-LIKE 1

*601554

6q25.2-q25.3

VIL2

VILLIN 2

*123900

6q25-q26

SOD2

SUPEROXIDE DISMUTASE 2

*147460

6q25.3

WTAP

WILMS TUMOR 1-ASSOCIATING PROTEIN

*605442

6q25-q27

ACAT2

ACETYL-CoA ACETYLTRANSFERASE 2

*100678

6q25.3-q26

TCP1

T-COMPLEX 1

*186980

6q25.3-q26

MAS1

MAS1 ONCOGENE

*165180

6q24-q27

IGF2R

INSULIN-LIKE GROWTH FACTOR II RECEPTOR

*147280

6q26

SLC22A1

SOLUTE CARRIER FAMILY 22, MEMBER 1;

*602607

6q26

SLC22A2

SOLUTE CARRIER FAMILY 22, MEMBER 2

*602608

6q26

SLC22A3

SOLUTE CARRIER FAMILY 22, MEMBER 3

*604842

6q27

LPA

APOLIPOPROTEIN(a)

*152200

6q27

PLG

PLASMINOGEN

*173350

6q26

MAP3K4

MITOGEN-ACTIVATED PROTEIN KINASE

*602425

Chr.6

T

T BRACHYURY, MOUSE, HOMOLOG OF

*601397

6q27

PARK2

PARKIN

*602544

6q25.2-q27

 

Now, after your initial research, enter the name of one gene that you wish to study (name from first column: ie. VIL2).  There may be more than one choice though as more than one gene could be associated with AD.