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DNA STRUCTURE AND FUNCTION > Genes > Flashcards

Genes Flashcards

1
Q

USP9Y

A

AZFa loci at Yq11.2

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2
Q

DDX3Y

A

AZFa loci at Yq11.2

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3
Q

DAZ

A

AZFc loci at Yq11.2

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4
Q

DAZL

A

Autosomal DAZ on 3q

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5
Q

BOULE

A

Autosomal DAZ on 2q

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6
Q

CFTR

A

Cystic fibrosis gene located at 7q31. Mutations also implicated in congenital bilateral absence of vas deferens (CBAVDS)

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7
Q

FMR1

A

Xq27.3. Implicated in fragile X.

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8
Q

PTPN11

A

12q24. Noonan syndrome (50%)

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9
Q

SOS1

A

2p21. Noonan syndrome (10-15%)

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10
Q

RAF1

A

3p25. Noonan syndrome (3-8%)

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11
Q

SOX9

A

17q24. Deletions can result in XY females.

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12
Q

WNT4

A

1p36, Dup(1q) associated with XY female development

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13
Q

RSP01

A

1p34. LOF results in XX masculinisation

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14
Q

B-catenin

A

Interferes with SOX9 expression to repress male pathway.
LOF - XX masculinisation.
GOF - XY female developement

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15
Q

FOXL2

A

3q22. Involved in male pathway repression.

LOF results in blepharophimsis-ptosis-eipcantus inversus syndrome (BPES).

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16
Q

DAX1 (NROB1)

A

Xp21.
LOF - CAH
GOF - XY sex reversal

17
Q

SF1

A

9q33. Involved in male development

18
Q

TESCO

A

17q24. Enhancer of SOX9

19
Q

FGF9

A

13q12. Maintains SOX9 exp

20
Q

DMTR1

A

9p24. Testes development and maintenance of male development postnally

21
Q

ATRX

A

Xq21. X linked thalassemia and mental retardation gene.

22
Q

GATA4

A

8p23. Involved in congenital heart disease and some cases of XY gonadal dysgenesis.

23
Q

5 alpha reductase

A

Converts testosterone to DHT.

24
Q

TBX1

25
Q

MYH11

A

16p13.11 (not reported prenatally)

26
Q

GJA5

A

Distal 1q21.1 dup/del syndrome

Report prenatally

27
Q

CHRNA7

A

15q13.3 deletion syndrome

Report prenatally

28
Q

SH2B1

A

Distal 16p11.2 deletion syndrome

Report prenatally

29
Q

TBX6

A

Proximal 16p11.2 deletion syndrome

Report prenatally

30
Q

HNF1B

A

17q12 deletion syndrome

Report prenatally

31
Q

TBX1

32
Q

MYH11

A

16p13.11 (not reported prenatally)

33
Q

GJA5

A

Distal 1q21.1 dup/del syndrome

Report prenatally

34
Q

CHRNA7

A

15q13.3 deletion syndrome

Report prenatally

35
Q

SH2B1

A

Distal 16p11.2 deletion syndrome

Report prenatally

36
Q

TBX6

A

Proximal 16p11.2 deletion syndrome

Report prenatally

37
Q

HNF1B

A

17q12 deletion syndrome

Report prenatally

DNA STRUCTURE AND FUNCTION (5 decks)

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